A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3469594



Internal ID18716780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39717345..39846262hg38UCSC Ensembl
Innerchr1:40183017..40311934hg19UCSC Ensembl
Innerchr1:39955604..40084521hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38128918
hg19128918
hg18128918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007943
Supporting Variants
Samples
Known GenesBMP8B, OXCT2, PPIE, TRIT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3469594
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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