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dbVar

Database of genomic structural variation

nsv6634557

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:213,024

Description:NC_000007.14:g.(83833300_?)_(?_84046323)del AND Hypogonadotropic hypogonadism 16 with or without anosmia
Publication(s):Balasubramanian et al. 2007, Hanchate et al. 2012, Young et al. 2012

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: 666 SVs from 70 studies. See in: genome view

Submitted genomic83,833,300-84,046,323

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6634557	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	83,833,300	84,046,323
nsv6634557	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	83,462,616	83,675,639

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326483	deletion	Multiple	Multiple	HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16; Hypogonadotropic hypogonadism 16 with or without anosmia; Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; See individual phenotypes in OMIM allelic variants	risk factor	ClinVar	RCV000032920.2, VCV000039715.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv18326483	Submitted genomic		NC_000007.14:g.(83 833300_?)_(?_84046 323)del	GRCh38 (hg38)		NC_000007.14	Chr7	83,833,300	84,046,323
nssv18326483	Remapped	Perfect	NC_000007.13:g.(83 462616_?)_(?_83675 639)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,462,616	83,675,639

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
nssv18326483	GRCh38: NC_000007.14:g.(83833300_?)_(?_84046323)del	deletion	germline	HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16; Hypogonadotropic hypogonadism 16 with or without anosmia; Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; Kallmann syndrome; See individual phenotypes in OMIM allelic variants	risk factor	ClinVar	RCV000032920.2, VCV000039715.1

No genotype data were submitted for this variant

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