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dbVar

Database of genomic structural variation

nsv482915

Organism: Homo sapiens

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

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:151,779

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: 496 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):32,308,555-32,460,333

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv482915	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	32,308,555	32,460,333
nsv482915	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	29,888,518	30,040,296

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv2996168	copy number gain	BAC aCGH	Probe signal intensity
nssv2996211	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
nssv2996168	Remapped	Perfect	NC_000018.10:g.(?_ 32308555)_(3246033 3_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	32,308,555	32,460,333
nssv2996211	Remapped	Perfect	NC_000018.10:g.(?_ 32308555)_(3246033 3_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	32,308,555	32,460,333
nssv2996168	Submitted genomic		NC_000018.9:g.(?_2 9888518)_(30040296 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	29,888,518	30,040,296
nssv2996211	Submitted genomic		NC_000018.9:g.(?_2 9888518)_(30040296 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	29,888,518	30,040,296

Validation Information

Variant Call ID	Experiment ID	Method	Analysis	Result
nssv2996168	2	FISH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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