A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2431041



Internal ID17868109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166058032..166066831hg38UCSC Ensembl
Innerchr6:166471520..166480319hg19UCSC Ensembl
Innerchr6:166391510..166400309hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg388800
hg198800
hg188800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965785
Supporting Variants
SamplesHGDP01284
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)nssv2431041
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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