A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601253



Internal ID16041976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29883666..29927451hg38UCSC Ensembl
Innerchr6:29851443..29895228hg19UCSC Ensembl
Innerchr6:29959422..30003207hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3843786
hg1943786
hg1843786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10344n54
Supporting Variantsnssv1051765, nssv1051764
Samples
Known GenesHCG4B, HLA-H
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601253
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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