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dbVar

Database of genomic structural variation

nsv826565

Organism: Homo sapiens

Study:nstd67 (Park et al. 2010)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:2,131

Publication(s):Park et al. 2010

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: 204 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):132,296,460-132,298,590

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv826565	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	132,296,460	132,298,590
nsv826565	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000012.11	Chr12	132,873,046	132,875,176
nsv826565	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003315937.1	Chr12\|NW_0 03315937.1	70,499	72,629
nsv826565	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000012.10	Chr12	131,383,119	131,385,249

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv1424511	copy number loss	NA18582	Oligo aCGH	Probe signal intensity	637
nssv1436970	copy number gain	NA18542	Oligo aCGH	Probe signal intensity	805

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1424511	Remapped	Perfect	NC_000012.12:g.(?_ 132296460)_(132298 590_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	132,296,460	132,298,590
nssv1436970	Remapped	Perfect	NC_000012.12:g.(?_ 132296460)_(132298 590_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	132,296,460	132,298,590
nssv1424511	Remapped	Perfect	NW_003315937.1:g.( ?_70499)_(72629_?) del	GRCh37.p13	First Pass	NW_003315937.1	Chr12\|NW_0 03315937.1	70,499	72,629
nssv1436970	Remapped	Perfect	NW_003315937.1:g.( ?_70499)_(72629_?) dup	GRCh37.p13	First Pass	NW_003315937.1	Chr12\|NW_0 03315937.1	70,499	72,629
nssv1424511	Remapped	Perfect	NC_000012.11:g.(?_ 132873046)_(132875 176_?)del	GRCh37.p13	Second Pass	NC_000012.11	Chr12	132,873,046	132,875,176
nssv1436970	Remapped	Perfect	NC_000012.11:g.(?_ 132873046)_(132875 176_?)dup	GRCh37.p13	Second Pass	NC_000012.11	Chr12	132,873,046	132,875,176
nssv1424511	Submitted genomic		NC_000012.10:g.(?_ 131383119)_(131385 249_?)del	NCBI36 (hg18)		NC_000012.10	Chr12	131,383,119	131,385,249
nssv1436970	Submitted genomic		NC_000012.10:g.(?_ 131383119)_(131385 249_?)dup	NCBI36 (hg18)		NC_000012.10	Chr12	131,383,119	131,385,249

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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