A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1996823



Internal ID17862368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:98972905..98974117hg38UCSC Ensembl
Innerchr14:99439242..99440454hg19UCSC Ensembl
Innerchr14:98508995..98510207hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381213
hg191213
hg181213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977503
Supporting Variants
SamplesHGDP01284
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)nssv1996823
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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