A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2339890



Internal ID17853644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:156003992..156007083hg38UCSC Ensembl
Innerchr4:156925144..156928235hg19UCSC Ensembl
Innerchr4:157144594..157147685hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg383092
hg193092
hg183092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967803
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)nssv2339890
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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