A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1985896



Internal ID17848278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:51739863..51775144hg38UCSC Ensembl
Innerchr14:52206581..52241862hg19UCSC Ensembl
Innerchr14:51276331..51311612hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3835282
hg1935282
hg1835282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976340
Supporting Variants
SamplesHGDP01029
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)nssv1985896
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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