A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014752



Internal ID18757287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53878402..54089219hg38UCSC Ensembl
Innerchr3:53912429..54123246hg19UCSC Ensembl
Innerchr3:53887469..54098286hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38210818
hg19210818
hg18210818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593375
Samples
Known GenesACTR8, SELK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014752
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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