A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557085



Internal ID15997808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3155340..3183302hg38UCSC Ensembl
Innerchr12:3264506..3292468hg19UCSC Ensembl
Innerchr12:3134767..3162729hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3827963
hg1927963
hg1827963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175412
Samples1780862226_A
Known GenesTSPAN9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557085
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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