A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007943



Internal ID18750474
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 StatusM
Merged Variantsdgv153n100
Supporting Variantsnssv3700649, nssv3469594
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)nsv1007943
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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