A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690278



Internal ID15080244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228276547..228498298hg38UCSC Ensembl
Innerchr1:228464248..228685999hg19UCSC Ensembl
Innerchr1:226530871..226752622hg18UCSC Ensembl
Innerchr1:224770983..224992734hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38221752
hg19221752
hg18221752
hg17221752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517545
Supporting Variants
Samples
Known GenesHIST3H2A, HIST3H2BB, HIST3H3, MIR4666A, MIR6742, OBSCN, RNF187, TRIM11, TRIM17
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690278
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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