A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516503



Internal ID15097110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:78145131..78209884hg38UCSC Ensembl
Innerchr11:77856177..77920930hg19UCSC Ensembl
Innerchr11:77533825..77598578hg18UCSC Ensembl
Innerchr11:77533825..77598578hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3864754
hg1964754
hg1864754
hg1764754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683822, nssv699801, nssv674080, nssv668719, nssv669790
Samples
Known GenesKCTD21, KCTD21-AS1, USP35
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516503
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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