A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1988121



Internal ID17865292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55002000..55007905hg38UCSC Ensembl
Innerchr14:55468718..55474623hg19UCSC Ensembl
Innerchr14:54538468..54544373hg18UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg385906
hg195906
hg185906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976342
Supporting Variants
SamplesHGDP01284
Known GenesWDHD1
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)nssv1988121
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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