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dbVar

Database of genomic structural variation

nsv4728842

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:652,867

Description:GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3 AND not provided

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: 2227 SVs from 100 studies. See in: genome view

Remapped(Score: Good):23,694,562-24,347,428

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4728842	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	23,694,562	24,347,428
nsv4728842	Remapped	Good	GRCh38.p12	PATCHES	First Pass	NW_018654722.1	Chr14\|NW_0 18654722.1	1	650,500
nsv4728842	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	24,163,771	24,818,728

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16255232	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001259179.1, VCV000980003.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16255232	Remapped	Good	NW_018654722.1:g.( ?_1)_(650500_?)dup	GRCh38.p12	First Pass	NW_018654722.1	Chr14\|NW_0 18654722.1	1	650,500
nssv16255232	Remapped	Good	NC_000014.9:g.(?_2 3694562)_(24347428 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	23,694,562	24,347,428
nssv16255232	Submitted genomic		NC_000014.8:g.(?_2 4163771)_(24818728 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	24,163,771	24,818,728

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
nssv16255232	GRCh37: NC_000014.8:g.(?_24163771)_(24818728_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001259179.1, VCV000980003.1	3

No genotype data were submitted for this variant

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