A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv706056



Internal ID15096022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228429362..228463310hg38UCSC Ensembl
Innerchr1:228617063..228651011hg19UCSC Ensembl
Innerchr1:226683686..226717634hg18UCSC Ensembl
Innerchr1:224923798..224957746hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3833949
hg1933949
hg1833949
hg1733949
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517545
Supporting Variants
Samples
Known GenesHIST3H2A, HIST3H2BB, MIR4666A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv706056
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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