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dbVar

Database of genomic structural variation

nsv4454847

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:112,698

Description:GRCh37/hg19 2q37.1(chr2:234162434-234275131)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: 388 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):233,253,788-233,366,485

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4454847	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	233,253,788	233,366,485
nsv4454847	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_011332690.1	Chr2\|NW_01 1332690.1	199,126	311,823
nsv4454847	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	234,162,434	234,275,131

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15773550	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000849848.2, VCV000689157.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15773550	Remapped	Perfect	NW_011332690.1:g.( ?_199126)_(311823_ ?)dup	GRCh38.p12	Second Pass	NW_011332690.1	Chr2\|NW_01 1332690.1	199,126	311,823
nssv15773550	Remapped	Perfect	NC_000002.12:g.(?_ 233253788)_(233366 485_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	233,253,788	233,366,485
nssv15773550	Submitted genomic		NC_000002.11:g.(?_ 234162434)_(234275 131_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	234,162,434	234,275,131

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
nssv15773550	GRCh37: NC_000002.11:g.(?_234162434)_(234275131_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000849848.2, VCV000689157.2	3

No genotype data were submitted for this variant

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