A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175758



Internal ID15507418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7604110..7669096hg38UCSC Ensembl
Innerchr12:7756706..7821692hg19UCSC Ensembl
Innerchr12:7647973..7712959hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3864987
hg1964987
hg1864987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557272
Supporting Variants
Samples1780854573_A
Known GenesAPOBEC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175758
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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