A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702592



Internal ID15092558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:41716652..41716907hg38UCSC Ensembl
Innerchr6:41684390..41684645hg19UCSC Ensembl
Innerchr6:41792368..41792623hg18UCSC Ensembl
Innerchr6:41792368..41792623hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
hg17256
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526309
Supporting Variants
Samples
Known GenesTFEB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702592
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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