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dbVar

Database of genomic structural variation

nsv3913895

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:9,749,961

Description:NCBI36/hg18 16p12.1-11.2(chr16:24314242-33760946)x3 AND See cases

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: 30400 SVs from 140 studies. See in: genome view

Remapped(Score: Good):24,370,632-34,120,592

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3913895	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	24,370,632	24,370,632	34,120,592	34,120,592
nsv3913895	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	24,381,953	24,406,741	33,853,445	33,923,059
nsv3913895	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	24,289,454	24,314,242	33,760,946	33,830,560

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126545	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451386.2, VCV000399656.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15126545	Remapped	Good	NC_000016.10:g.(24 370632_24370632)_( 34120592_34120592) dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	24,370,632	24,370,632	34,120,592	34,120,592
nssv15126545	Remapped	Perfect	NC_000016.9:g.(243 81953_24406741)_(3 3853445_33923059)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	24,381,953	24,406,741	33,853,445	33,923,059
nssv15126545	Submitted genomic		NC_000016.8:g.(242 89454_24314242)_(3 3760946_33830560)d up	NCBI36 (hg18)		NC_000016.8	Chr16	24,289,454	24,314,242	33,760,946	33,830,560

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
nssv15126545	NCBI36: NC_000016.8:g.(24289454_24314242)_(33760946_33830560)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000451386.2, VCV000399656.2	3

No genotype data were submitted for this variant

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