A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674573



Internal ID15064539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181239276..181263936hg38UCSC Ensembl
Innerchr5:180666276..180690937hg19UCSC Ensembl
Innerchr5:180598882..180623543hg18UCSC Ensembl
Innerchr5:180598882..180623543hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3824661
hg1924662
hg1824662
hg1724662
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517697
Supporting Variants
Samples
Known GenesGNB2L1, SNORD95, SNORD96A, TRIM52, TRIM52-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674573
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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