A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517096



Internal ID15097703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21537198..21670355hg38UCSC Ensembl
Innerchr1:21863691..21996848hg19UCSC Ensembl
Innerchr1:21736278..21869435hg18UCSC Ensembl
Innerchr1:21608997..21742154hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38133158
hg19133158
hg18133158
hg17133158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674624, nssv667278, nssv678465, nssv676837, nssv683155, nssv699191, nssv682220, nssv674071, nssv705217, nssv653597, nssv679211, nssv661510, nssv651804, nssv678892, nssv652854, nssv658962, nssv657650, nssv695226, nssv682311, nssv667702, nssv671036
Samples
Known GenesALPL, RAP1GAP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517096
Frequency
Sample Size2026
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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