A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705552



Internal ID15095518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:93677970..93732585hg38UCSC Ensembl
Innerchr8:94690198..94744813hg19UCSC Ensembl
Innerchr8:94759374..94813989hg18UCSC Ensembl
Innerchr8:94759374..94813989hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3854616
hg1954616
hg1854616
hg1754616
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528872
Supporting Variants
Samples
Known GenesFAM92A1, LINC00535, RBM12B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705552
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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