A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517088



Internal ID15097695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77308728..77312923hg38UCSC Ensembl
Innerchr1:77774413..77778608hg19UCSC Ensembl
Innerchr1:77547001..77551196hg18UCSC Ensembl
Innerchr1:77486434..77490629hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384196
hg194196
hg184196
hg174196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656535, nssv653765, nssv671217, nssv681619
Samples
Known GenesAK5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517088
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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