A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700185



Internal ID15090151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144000454..144112657hg38UCSC Ensembl
Innerchr4:144921607..145033810hg19UCSC Ensembl
Innerchr4:145141057..145253260hg18UCSC Ensembl
Innerchr4:145279212..145391415hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38112204
hg19112204
hg18112204
hg17112204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517006
Supporting Variants
Samples
Known GenesGYPA, GYPB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700185
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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