A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787260



Internal ID15734530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6946329..6956243hg38UCSC Ensembl
Innerchr12:7055492..7065406hg19UCSC Ensembl
Innerchr12:6925753..6935667hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg389915
hg199915
hg189915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557264
Supporting Variants
Samples
Known GenesPTPN6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787260
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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