A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517021



Internal ID15444314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65696393..65709378hg38UCSC Ensembl
Innerchr5:64992220..65005205hg19UCSC Ensembl
Innerchr5:65027976..65040961hg18UCSC Ensembl
Innerchr5:65027976..65040961hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3812986
hg1912986
hg1812986
hg1712986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672937, nssv690165, nssv689615, nssv658956, nssv668930, nssv670354, nssv653629, nssv668060, nssv672116, nssv671577, nssv653963, nssv667325, nssv673762, nssv687230, nssv685054, nssv668187, nssv676019, nssv677626
Samples
Known GenesSGTB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517021
Frequency
Sample Size2026
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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