A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2363029



Internal ID17847777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:73408827..73412776hg38UCSC Ensembl
Innerchr5:72704654..72708603hg19UCSC Ensembl
Innerchr5:72740410..72744359hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383950
hg193950
hg183950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968209
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)nssv2363029
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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