A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048117



Internal ID19137336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:42387773..42554368hg38UCSC Ensembl
Innerchr14:42856976..43023571hg19UCSC Ensembl
Innerchr14:41926726..42093321hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38166596
hg19166596
hg18166596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530205
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)nsv1048117
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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