A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv663548



Internal ID15053514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181195615..181263936hg38UCSC Ensembl
Innerchr5:180622615..180690937hg19UCSC Ensembl
Innerchr5:180555221..180623543hg18UCSC Ensembl
Innerchr5:180555221..180623543hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3868322
hg1968323
hg1868323
hg1768323
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517697
Supporting Variants
Samples
Known GenesGNB2L1, MIR4638, SNORD95, SNORD96A, TRIM41, TRIM52, TRIM52-AS1, TRIM7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv663548
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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