A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2309976



Internal ID17805733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1323700..1329731hg38UCSC Ensembl
Innerchr4:1317488..1323519hg19UCSC Ensembl
Innerchr4:1307488..1313519hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg386032
hg196032
hg186032
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980177
Supporting Variants
SamplesHGDP00778
Known GenesMAEA
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)nssv2309976
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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