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dbVar

Database of genomic structural variation

nsv483086

Organism: Homo sapiens

Study:nstd41 (Iafrate et al. 2004)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:161,152

Publication(s):Iafrate et al. 2004

Links to Other Resources

Overlapping Genes

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: 540 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):170,411,926-170,573,077

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv483086	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	170,411,926	170,573,077
nsv483086	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	171,268,436	171,429,587

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv2996217	copy number gain	BAC aCGH	Probe signal intensity
nssv2996218	copy number gain	BAC aCGH	Probe signal intensity
nssv2996259	copy number gain	BAC aCGH	Probe signal intensity

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv2996217	Remapped	Perfect	NC_000002.12:g.(?_ 170411926)_(170573 077_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	170,411,926	170,573,077
nssv2996218	Remapped	Perfect	NC_000002.12:g.(?_ 170411926)_(170573 077_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	170,411,926	170,573,077
nssv2996259	Remapped	Perfect	NC_000002.12:g.(?_ 170411926)_(170573 077_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	170,411,926	170,573,077
nssv2996217	Submitted genomic		NC_000002.11:g.(?_ 171268436)_(171429 587_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	171,268,436	171,429,587
nssv2996218	Submitted genomic		NC_000002.11:g.(?_ 171268436)_(171429 587_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	171,268,436	171,429,587
nssv2996259	Submitted genomic		NC_000002.11:g.(?_ 171268436)_(171429 587_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	171,268,436	171,429,587

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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