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dbVar

Database of genomic structural variation

nsv428312

Organism: Homo sapiens

Study:nstd8 (Perry et al. 2008b)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:121,828

Publication(s):Perry et al. 2008

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

Remapped(Score: Perfect):225,217,249-225,339,076

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv428312	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	225,217,249	225,339,076
nsv428312	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	225,404,951	225,526,778
nsv428312	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	223,471,574	223,593,401

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv452997	copy number gain	HGDP00984	BAC aCGH	Probe signal intensity	75
nssv453008	copy number gain	NA19108	BAC aCGH	Probe signal intensity	84

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv452997	Remapped	Perfect	NC_000001.11:g.(?_ 225217249)_(225339 076_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	225,217,249	225,339,076
nssv453008	Remapped	Perfect	NC_000001.11:g.(?_ 225217249)_(225339 076_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	225,217,249	225,339,076
nssv452997	Remapped	Perfect	NC_000001.10:g.(?_ 225404951)_(225526 778_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	225,404,951	225,526,778
nssv453008	Remapped	Perfect	NC_000001.10:g.(?_ 225404951)_(225526 778_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	225,404,951	225,526,778
nssv452997	Submitted genomic		NC_000001.9:g.(?_2 23471574)_(2235934 01_?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	223,471,574	223,593,401
nssv453008	Submitted genomic		NC_000001.9:g.(?_2 23471574)_(2235934 01_?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	223,471,574	223,593,401

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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