A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1988658



Internal ID17508262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:60208870..60212833hg38UCSC Ensembl
Innerchr14:60675588..60679551hg19UCSC Ensembl
Innerchr14:59745341..59749304hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg383964
hg193964
hg183964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974343
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)nssv1988658
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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