A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520053



Internal ID15447346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:38187165..38239860hg38UCSC Ensembl
Innerchr6:38154941..38207636hg19UCSC Ensembl
Innerchr6:38262919..38315614hg18UCSC Ensembl
Innerchr6:38262919..38315614hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3852696
hg1952696
hg1852696
hg1752696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697197
Samples
Known GenesBTBD9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520053
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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