A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528762



Internal ID15109369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182532374..182537687hg38UCSC Ensembl
Innerchr1:182501509..182506822hg19UCSC Ensembl
Innerchr1:180768132..180773445hg18UCSC Ensembl
Innerchr1:179233166..179238479hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385314
hg195314
hg185314
hg175314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705424
Samples
Known GenesRGSL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528762
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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