A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049063



Internal ID18791594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31004315..31153535hg38UCSC Ensembl
Innerchr14:31473521..31622741hg19UCSC Ensembl
Innerchr14:30543272..30692492hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38149221
hg19149221
hg18149221
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3528585
Samples
Known GenesAP4S1, HECTD1, MIR624, STRN3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049063
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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