A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520175



Internal ID15447468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56001216..56104240hg38UCSC Ensembl
Innerchr2:56228351..56331375hg19UCSC Ensembl
Innerchr2:56081855..56184879hg18UCSC Ensembl
Innerchr2:56140002..56243026hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38103025
hg19103025
hg18103025
hg17103025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697263
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520175
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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