A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523209



Internal ID15450502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241339609..241343947hg38UCSC Ensembl
Innerchr1:241502909..241507247hg19UCSC Ensembl
Innerchr1:239569532..239573870hg18UCSC Ensembl
Innerchr1:237828950..237833288hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384339
hg194339
hg184339
hg174339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698929
Samples
Known GenesRGS7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523209
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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