A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2405391



Internal ID17875019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33273729..33280725hg38UCSC Ensembl
Innerchr6:33241506..33248502hg19UCSC Ensembl
Innerchr6:33349484..33356480hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg386997
hg196997
hg186997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970109
Supporting Variants
SamplesHGDP01284
Known GenesB3GALT4, RPS18, WDR46
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)nssv2405391
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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