A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557575



Internal ID16344984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11763974..11776547hg38UCSC Ensembl
Innerchr12:11916908..11929481hg19UCSC Ensembl
Innerchr12:11808175..11820748hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3812574
hg1912574
hg1812574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2383n54
Supporting Variantsnssv1175436
SamplesHGDP00890
Known GenesETV6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557575
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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