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dbVar

Database of genomic structural variation

nsv3924824

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:540,658

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: 1908 SVs from 91 studies. See in: genome view

Submitted genomic29,645,363-30,186,020

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv3924824	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000016.10	Chr16	29,645,363	30,186,020
nsv3924824	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000016.9	Chr16	29,656,684	30,197,341
nsv3924824	Submitted genomic	NCBI36 (hg18)	Primary Assembly	NC_000016.8	Chr16	29,564,185	30,104,842

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15135477	copy number gain	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV000138342.6, VCV000149292.2	3
nssv15136075	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000138343.6, VCV000149293.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15135477	Submitted genomic	NC_000016.10:g.(?_ 29645363)_(3018602 0_?)dup	GRCh38 (hg38)	NC_000016.10	Chr16	29,645,363	30,186,020
nssv15136075	Submitted genomic	NC_000016.10:g.(?_ 29645363)_(3018602 0_?)del	GRCh38 (hg38)	NC_000016.10	Chr16	29,645,363	30,186,020
nssv15135477	Submitted genomic	NC_000016.9:g.(?_2 9656684)_(30197341 _?)dup	GRCh37 (hg19)	NC_000016.9	Chr16	29,656,684	30,197,341
nssv15136075	Submitted genomic	NC_000016.9:g.(?_2 9656684)_(30197341 _?)del	GRCh37 (hg19)	NC_000016.9	Chr16	29,656,684	30,197,341
nssv15135477	Submitted genomic	NC_000016.8:g.(?_2 9564185)_(30104842 _?)dup	NCBI36 (hg18)	NC_000016.8	Chr16	29,564,185	30,104,842
nssv15136075	Submitted genomic	NC_000016.8:g.(?_2 9564185)_(30104842 _?)del	NCBI36 (hg18)	NC_000016.8	Chr16	29,564,185	30,104,842

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
nssv15135477	GRCh37: NC_000016.9:g.(?_29656684)_(30197341_?)dup, GRCh38: NC_000016.10:g.(?_29645363)_(30186020_?)dup, NCBI36: NC_000016.8:g.(?_29564185)_(30104842_?)dup	copy number gain	see ClinVar for details	See cases	Likely pathogenic	ClinVar	RCV000138342.6, VCV000149292.2	3
nssv15136075	GRCh37: NC_000016.9:g.(?_29656684)_(30197341_?)del, GRCh38: NC_000016.10:g.(?_29645363)_(30186020_?)del, NCBI36: NC_000016.8:g.(?_29564185)_(30104842_?)del	copy number loss	see ClinVar for details	See cases	Pathogenic	ClinVar	RCV000138343.6, VCV000149293.2	1

No genotype data were submitted for this variant

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