A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043033



Internal ID19132252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31069778..31217490hg38UCSC Ensembl
Innerchr14:31538984..31686696hg19UCSC Ensembl
Innerchr14:30608735..30756447hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38147713
hg19147713
hg18147713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3528587
Samples
Known GenesAP4S1, HECTD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043033
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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