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dbVar

Database of genomic structural variation

nsv3913576

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:474,271

Description:NCBI36/hg18 4q13.1(chr4:64367836-64793049)x1 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: 2014 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):63,803,564-64,277,834

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
nsv3913576	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	63,803,564	63,819,523	64,244,736	64,277,834
nsv3913576	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	64,669,282	64,685,241	65,110,454	65,143,552
nsv3913576	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	64,351,877	64,367,836	64,793,049	64,826,147

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15129725	copy number loss	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000453277.2, VCV000397986.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15129725	Remapped	Perfect	NC_000004.12:g.(63 803564_63819523)_( 64244736_64277834) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	63,803,564	63,819,523	64,244,736	64,277,834
nssv15129725	Remapped	Perfect	NC_000004.11:g.(64 669282_64685241)_( 65110454_65143552) del	GRCh37.p13	First Pass	NC_000004.11	Chr4	64,669,282	64,685,241	65,110,454	65,143,552
nssv15129725	Submitted genomic		NC_000004.10:g.(64 351877_64367836)_( 64793049_64826147) del	NCBI36 (hg18)		NC_000004.10	Chr4	64,351,877	64,367,836	64,793,049	64,826,147

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
nssv15129725	NCBI36: NC_000004.10:g.(64351877_64367836)_(64793049_64826147)del	copy number loss	not provided	See cases	Likely benign	ClinVar	RCV000453277.2, VCV000397986.2	1

No genotype data were submitted for this variant

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