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dbVar

Database of genomic structural variation

nsv3915661

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:115,377

Description:NCBI36/hg18 16p13.11(chr16:16137793-16213217)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: 796 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):16,118,815-16,234,058

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
nsv3915661	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	16,118,815	16,136,435	16,211,859	16,234,058
nsv3915661	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187607.1	Chr16\|NT_1 87607.1	1,776,680	1,776,680	1,892,056	1,892,056
nsv3915661	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	16,212,672	16,230,292	16,305,716	16,327,915
nsv3915661	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	16,120,173	16,137,793	16,213,217	16,235,416

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124619	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000449847.2, VCV000400161.2	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
nssv15124619	Remapped	Good	NT_187607.1:g.(177 6680_1776680)_(189 2056_1892056)dup	GRCh38.p12	Second Pass	NT_187607.1	Chr16\|NT_1 87607.1	1,776,680	1,776,680	1,892,056	1,892,056
nssv15124619	Remapped	Perfect	NC_000016.10:g.(16 118815_16136435)_( 16211859_16234058) dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	16,118,815	16,136,435	16,211,859	16,234,058
nssv15124619	Remapped	Perfect	NC_000016.9:g.(162 12672_16230292)_(1 6305716_16327915)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	16,212,672	16,230,292	16,305,716	16,327,915
nssv15124619	Submitted genomic		NC_000016.8:g.(161 20173_16137793)_(1 6213217_16235416)d up	NCBI36 (hg18)		NC_000016.8	Chr16	16,120,173	16,137,793	16,213,217	16,235,416

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
nssv15124619	NCBI36: NC_000016.8:g.(16120173_16137793)_(16213217_16235416)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000449847.2, VCV000400161.2	3

No genotype data were submitted for this variant

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