A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1992970



Internal ID17799803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:76967201..76969117hg38UCSC Ensembl
Innerchr14:77433544..77435460hg19UCSC Ensembl
Innerchr14:76503297..76505213hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381917
hg191917
hg181917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977491
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv1992970
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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