A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528017



Internal ID15108624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244618430..244675520hg38UCSC Ensembl
Innerchr1:244781732..244838822hg19UCSC Ensembl
Innerchr1:242848355..242905445hg18UCSC Ensembl
Innerchr1:241107773..241164863hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3857091
hg1957091
hg1857091
hg1757091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704545
Samples
Known GenesC1orf101, DESI2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528017
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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