A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003123



Internal ID19092340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88833599..89189899hg38UCSC Ensembl
Innerchr2:89133112..89489383hg19UCSC Ensembl
Innerchr2:88914227..89270498hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38356301
hg19356272
hg18356272
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3932n100
Supporting Variantsnssv3728963, nssv3728962, nssv3728964
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003123
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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