A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657126



Internal ID15047092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228268446..228430387hg38UCSC Ensembl
Innerchr1:228456147..228618088hg19UCSC Ensembl
Innerchr1:226522770..226684711hg18UCSC Ensembl
Innerchr1:224762882..224924823hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38161942
hg19161942
hg18161942
hg17161942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517545
Supporting Variants
Samples
Known GenesHIST3H3, MIR6742, OBSCN, TRIM11, TRIM17
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv657126
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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