A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048705



Internal ID19137924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43957470..44497538hg38UCSC Ensembl
Innerchr14:44426673..44966741hg19UCSC Ensembl
Innerchr14:43496423..44036491hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38540069
hg19540069
hg18540069
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530278
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048705
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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