A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787258



Internal ID15734528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6943922..6954519hg38UCSC Ensembl
Innerchr12:7053085..7063682hg19UCSC Ensembl
Innerchr12:6923346..6933943hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3810598
hg1910598
hg1810598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557262
Supporting Variants
Samples
Known GenesC12orf57, PTPN6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787258
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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