A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014376



Internal ID18756910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62510801..62715688hg38UCSC Ensembl
Innerchr1:62976472..63181359hg19UCSC Ensembl
Innerchr1:62749060..62953947hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38204888
hg19204888
hg18204888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3477555
Samples
Known GenesANGPTL3, DOCK7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014376
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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