A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557270



Internal ID16344679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7574948..7648936hg38UCSC Ensembl
Innerchr12:7727544..7801532hg19UCSC Ensembl
Innerchr12:7618811..7692799hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3873989
hg1973989
hg1873989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2327n54
Supporting Variantsnssv787267
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557270
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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