A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522599



Internal ID15449892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:20704940..20707452hg38UCSC Ensembl
Innerchr7:20744563..20747075hg19UCSC Ensembl
Innerchr7:20711088..20713600hg18UCSC Ensembl
Innerchr7:20517803..20520315hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg382513
hg192513
hg182513
hg172513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705990
Samples
Known GenesABCB5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522599
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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