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dbVar

Database of genomic structural variation

nsv3915924

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:388,585

Description:NCBI36/hg18 4q13.3(chr4:73200488-73508305)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: 1010 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):72,076,094-72,464,678

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
nsv3915924	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	72,076,094	72,115,907	72,423,724	72,464,678
nsv3915924	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	72,941,811	72,981,624	73,289,441	73,330,395
nsv3915924	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	73,160,675	73,200,488	73,508,305	73,549,259

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127146	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450332.2, VCV000401748.2	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
nssv15127146	Remapped	Perfect	NC_000004.12:g.(72 076094_72115907)_( 72423724_72464678) dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	72,076,094	72,115,907	72,423,724	72,464,678
nssv15127146	Remapped	Perfect	NC_000004.11:g.(72 941811_72981624)_( 73289441_73330395) dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	72,941,811	72,981,624	73,289,441	73,330,395
nssv15127146	Submitted genomic		NC_000004.10:g.(73 160675_73200488)_( 73508305_73549259) dup	NCBI36 (hg18)		NC_000004.10	Chr4	73,160,675	73,200,488	73,508,305	73,549,259

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
nssv15127146	NCBI36: NC_000004.10:g.(73160675_73200488)_(73508305_73549259)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000450332.2, VCV000401748.2	3

No genotype data were submitted for this variant

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