A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524446



Internal ID15105053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71063928..71078326hg38UCSC Ensembl
Innerchr2:71291058..71305456hg19UCSC Ensembl
Innerchr2:71144566..71158964hg18UCSC Ensembl
Innerchr2:71202713..71217111hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3814399
hg1914399
hg1814399
hg1714399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700379
Samples
Known GenesNAGK
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524446
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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