A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517696



Internal ID15098303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61971257..61976116hg38UCSC Ensembl
Innerchr1:62436929..62441788hg19UCSC Ensembl
Innerchr1:62209517..62214376hg18UCSC Ensembl
Innerchr1:62148950..62153809hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg384860
hg194860
hg184860
hg174860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654435, nssv665354, nssv675663, nssv661867, nssv682090, nssv664968, nssv664719, nssv689496, nssv654241, nssv676169, nssv685685, nssv671365, nssv662958, nssv665406, nssv694621, nssv681293, nssv666544, nssv673772, nssv660368
Samples
Known GenesINADL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517696
Frequency
Sample Size2026
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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