A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2425018



Internal ID17815227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:143326340..143328713hg38UCSC Ensembl
Innerchr6:143647477..143649850hg19UCSC Ensembl
Innerchr6:143689170..143691543hg18UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg382374
hg192374
hg182374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965775
Supporting Variants
SamplesHGDP00927
Known GenesAIG1
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)nssv2425018
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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