A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557168



Internal ID16344577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5928873..5932131hg38UCSC Ensembl
Innerchr12:6038039..6041297hg19UCSC Ensembl
Innerchr12:5908300..5911558hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg383259
hg193259
hg183259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2303n54
Supporting Variantsnssv786960
Samples
Known GenesANO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557168
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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