A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518695



Internal ID15099302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60971048..61033797hg38UCSC Ensembl
Innerchr5:60266875..60329624hg19UCSC Ensembl
Innerchr5:60302632..60365381hg18UCSC Ensembl
Innerchr5:60302632..60365381hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3862750
hg1962750
hg1862750
hg1762750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696146
Samples
Known GenesNDUFAF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518695
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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