A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998656



Internal ID18811506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182886563..183008335hg38UCSC Ensembl
Innerchr1:182855698..182977470hg19UCSC Ensembl
Innerchr1:181122321..181244093hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38121773
hg19121773
hg18121773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704832
Samples
Known GenesDHX9, SHCBP1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998656
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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