A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517453



Internal ID15098060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70834406..70866790hg38UCSC Ensembl
Innerchr10:72594162..72626547hg19UCSC Ensembl
Innerchr10:72264168..72296553hg18UCSC Ensembl
Innerchr10:72264168..72296553hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3832385
hg1932386
hg1832386
hg1732386
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695667, nssv652060, nssv695575, nssv656561, nssv663020, nssv685263, nssv663845, nssv688367, nssv697099, nssv675557
Samples
Known GenesSGPL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517453
Frequency
Sample Size2026
Observed Gain1
Observed Loss9
Observed Complex0
Frequencyn/a


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