A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517414



Internal ID15444707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168035760..168038013hg38UCSC Ensembl
Innerchr5:167462765..167465018hg19UCSC Ensembl
Innerchr5:167395343..167397596hg18UCSC Ensembl
Innerchr5:167395343..167397596hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg382254
hg192254
hg182254
hg172254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705804, nssv651956, nssv663958
Samples
Known GenesTENM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517414
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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