A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517545



Internal ID15098152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228268446..228498298hg38UCSC Ensembl
Innerchr1:228456147..228685999hg19UCSC Ensembl
Innerchr1:226522770..226752622hg18UCSC Ensembl
Innerchr1:224762882..224992734hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38229853
hg19229853
hg18229853
hg17229853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv686799, nssv657126, nssv668715, nssv690278, nssv652328, nssv688019, nssv692740, nssv691445, nssv669591, nssv664603, nssv706056, nssv677715, nssv664588, nssv670195, nssv676839
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)nsv517545
Frequency
Sample Size2026
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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