A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516530



Internal ID15443823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3591802..3599206hg38UCSC Ensembl
Innerchr5:3591916..3599320hg19UCSC Ensembl
Innerchr5:3644916..3652320hg18UCSC Ensembl
Innerchr5:3644916..3652320hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg387405
hg197405
hg187405
hg177405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691824, nssv673540, nssv668911, nssv672191, nssv692855
Samples
Known GenesIRX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516530
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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