A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042135



Internal ID19131354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:25670055..25693285hg38UCSC Ensembl
Innerchr13:26244193..26267423hg19UCSC Ensembl
Innerchr13:25142193..25165423hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3823231
hg1923231
hg1823231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3714957, nssv3523207, nssv3523206, nssv3523205
Samples
Known GenesATP8A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042135
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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