A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688133



Internal ID15078099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:53993651..54000869hg38UCSC Ensembl
Innerchr6:53858449..53865667hg19UCSC Ensembl
Innerchr6:53966408..53973626hg18UCSC Ensembl
Innerchr6:53966408..53973626hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg387219
hg197219
hg187219
hg177219
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515808
Supporting Variants
Samples
Known GenesMLIP-IT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688133
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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