A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1415559



Internal ID16056771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:51347101..51958317hg38UCSC Ensembl
Outerchr8:51339845..52110824hg38UCSC Ensembl
Innerchr8:52259661..52870877hg19UCSC Ensembl
Outerchr8:52252405..53023384hg19UCSC Ensembl
Innerchr8:52422214..53033430hg18UCSC Ensembl
Outerchr8:52414958..53185937hg18UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg38770980
hg19770980
hg18770980
Variant TypeCNV gain
Copy Number
Allele State
Allele Originde novo
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817615
Supporting Variants
Samples102
Known GenesPCMTD1, PXDNL
MethodSNP array
Analysis
PlatformIllumina Human1M-Duov3 DNA Analysis BeadChip (Human1M-Duov3_B)
Comments
ReferenceForsberg_et_al_2012
Pubmed ID22305530
Accession Number(s)nssv1415559
Frequency
Sample Size6
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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