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dbVar

Database of genomic structural variation

nsv3904722

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38, NCBI36

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:140,140

Description:
See descriptions for individual calls in download files

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: 358 SVs from 60 studies. See in: genome view

Submitted genomic38,629,364-38,769,503

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv3904722	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000023.11	ChrX	38,629,364	38,769,503
nsv3904722	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000023.10	ChrX	38,488,617	38,628,756
nsv3904722	Submitted genomic	NCBI36 (hg18)	Primary Assembly	NC_000023.9	ChrX	38,373,561	38,513,700

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15135853	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000138524.5, VCV000149522.2	2
nssv15136122	copy number gain	Multiple	Multiple	See cases	conflicting data from submitters	ClinVar	RCV000138523.5, VCV000149521.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15135853	Submitted genomic	NC_000023.11:g.(?_ 38629364)_(3876950 3_?)dup	GRCh38 (hg38)	NC_000023.11	ChrX	38,629,364	38,769,503
nssv15136122	Submitted genomic	NC_000023.11:g.(?_ 38629364)_(3876950 3_?)dup	GRCh38 (hg38)	NC_000023.11	ChrX	38,629,364	38,769,503
nssv15135853	Submitted genomic	NC_000023.10:g.(?_ 38488617)_(3862875 6_?)dup	GRCh37 (hg19)	NC_000023.10	ChrX	38,488,617	38,628,756
nssv15136122	Submitted genomic	NC_000023.10:g.(?_ 38488617)_(3862875 6_?)dup	GRCh37 (hg19)	NC_000023.10	ChrX	38,488,617	38,628,756
nssv15135853	Submitted genomic	NC_000023.9:g.(?_3 8373561)_(38513700 _?)dup	NCBI36 (hg18)	NC_000023.9	ChrX	38,373,561	38,513,700
nssv15136122	Submitted genomic	NC_000023.9:g.(?_3 8373561)_(38513700 _?)dup	NCBI36 (hg18)	NC_000023.9	ChrX	38,373,561	38,513,700

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	Copy number
nssv15135853	GRCh37: NC_000023.10:g.(?_38488617)_(38628756_?)dup, GRCh38: NC_000023.11:g.(?_38629364)_(38769503_?)dup, NCBI36: NC_000023.9:g.(?_38373561)_(38513700_?)dup	copy number gain	see ClinVar for details	See cases	Uncertain significance	ClinVar	RCV000138524.5, VCV000149522.2	2
nssv15136122	GRCh37: NC_000023.10:g.(?_38488617)_(38628756_?)dup, GRCh38: NC_000023.11:g.(?_38629364)_(38769503_?)dup, NCBI36: NC_000023.9:g.(?_38373561)_(38513700_?)dup	copy number gain	see ClinVar for details	See cases	conflicting data from submitters	ClinVar	RCV000138523.5, VCV000149521.2	3

No genotype data were submitted for this variant

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