A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1987692



Internal ID17749012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:57207222..57208909hg38UCSC Ensembl
Innerchr14:57673940..57675627hg19UCSC Ensembl
Innerchr14:56743693..56745380hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg381688
hg191688
hg181688
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977472
Supporting Variants
SamplesHGDP00521
Known GenesEXOC5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1987692
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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