A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2431714



Internal ID17771584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167185742..167206548hg38UCSC Ensembl
Innerchr6:167599230..167620036hg19UCSC Ensembl
Innerchr6:167519220..167540026hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3820807
hg1920807
hg1820807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965788
Supporting Variants
SamplesHGDP00542
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)nssv2431714
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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