A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3484966



Internal ID18725921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246948905..247113616hg38UCSC Ensembl
Innerchr1:247112207..247276918hg19UCSC Ensembl
Innerchr1:245178830..245343541hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38164712
hg19164712
hg18164712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999879
Supporting Variants
Samples
Known GenesC1orf229, ZNF669, ZNF670, ZNF670-ZNF695, ZNF695
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3484966
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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