A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557272



Internal ID15997995
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 StatusM
Merged Variants
Supporting Variantsnssv1175758, nssv1175759
Samples1780854573_A, 1780862306_A
Known GenesAPOBEC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557272
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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