A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2422122



Internal ID17776141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:127348149..127377180hg38UCSC Ensembl
Innerchr6:127669294..127698325hg19UCSC Ensembl
Innerchr6:127710987..127740018hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3829032
hg1929032
hg1829032
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965762
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)nssv2422122
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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