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dbVar

Database of genomic structural variation

nsv6312909

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:5
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,365,778

Description:
See descriptions for individual calls in download files
Publication(s):Balasubramanian et al. 2007, Robin et al. 1998

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 3825 SVs from 88 studies. See in: genome view

Remapped(Score: Perfect):37,737,923-39,103,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312909	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	37,737,923	39,103,700
nsv6312909	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	37,595,441	38,961,219

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971065	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001950890.4, VCV001455925.4
nssv17972200	deletion	Multiple	Multiple	HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2; Hypogonadotropic hypogonadism 2 with or without anosmia; Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; PFEIFFER SYNDROME; Pfeiffer syndrome; Pfeiffer syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001970153.4, VCV001455925.4
nssv18788662	duplication	Multiple	Multiple	Spastic paraplegia; Spastic paraplegia	Uncertain significance	ClinVar	RCV003109616.2, VCV002425692.2
nssv18790700	duplication	Multiple	Multiple	Autosomal recessive spastic paraplegia type 54; SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54; Spastic paraplegia 54, autosomal recessive	Uncertain significance	ClinVar	RCV003116547.2, VCV002425692.2
nssv18790701	duplication	Multiple	Multiple	HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2; Hypogonadotropic hypogonadism 2 with or without anosmia; Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; PFEIFFER SYNDROME; Pfeiffer syndrome; Pfeiffer syndrome; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003116548.2, VCV002425692.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971065	Remapped	Perfect	NC_000008.11:g.(?_ 37737923)_(3910370 0_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	37,737,923	39,103,700
nssv17972200	Remapped	Perfect	NC_000008.11:g.(?_ 37737923)_(3910370 0_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	37,737,923	39,103,700
nssv18788662	Remapped	Perfect	NC_000008.11:g.(?_ 37737923)_(3910370 0_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	37,737,923	39,103,700
nssv18790700	Remapped	Perfect	NC_000008.11:g.(?_ 37737923)_(3910370 0_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	37,737,923	39,103,700
nssv18790701	Remapped	Perfect	NC_000008.11:g.(?_ 37737923)_(3910370 0_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	37,737,923	39,103,700
nssv17971065	Submitted genomic		NC_000008.10:g.(?_ 37595441)_(3896121 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	37,595,441	38,961,219
nssv17972200	Submitted genomic		NC_000008.10:g.(?_ 37595441)_(3896121 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	37,595,441	38,961,219
nssv18788662	Submitted genomic		NC_000008.10:g.(?_ 37595441)_(3896121 9_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	37,595,441	38,961,219
nssv18790700	Submitted genomic		NC_000008.10:g.(?_ 37595441)_(3896121 9_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	37,595,441	38,961,219
nssv18790701	Submitted genomic		NC_000008.10:g.(?_ 37595441)_(3896121 9_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	37,595,441	38,961,219

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971065	GRCh37: NC_000008.10:g.(?_37595441)_(38961219_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001950890.4, VCV001455925.4
nssv17972200	GRCh37: NC_000008.10:g.(?_37595441)_(38961219_?)del	deletion	germline	HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2; Hypogonadotropic hypogonadism 2 with or without anosmia; Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; PFEIFFER SYNDROME; Pfeiffer syndrome; Pfeiffer syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001970153.4, VCV001455925.4
nssv18788662	GRCh37: NC_000008.10:g.(?_37595441)_(38961219_?)dup	duplication	germline	Spastic paraplegia; Spastic paraplegia	Uncertain significance	ClinVar	RCV003109616.2, VCV002425692.2
nssv18790700	GRCh37: NC_000008.10:g.(?_37595441)_(38961219_?)dup	duplication	germline	Autosomal recessive spastic paraplegia type 54; SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54; Spastic paraplegia 54, autosomal recessive	Uncertain significance	ClinVar	RCV003116547.2, VCV002425692.2
nssv18790701	GRCh37: NC_000008.10:g.(?_37595441)_(38961219_?)dup	duplication	germline	HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2; Hypogonadotropic hypogonadism 2 with or without anosmia; Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; PFEIFFER SYNDROME; Pfeiffer syndrome; Pfeiffer syndrome; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003116548.2, VCV002425692.2

No genotype data were submitted for this variant

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