A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2405144



Internal ID17742891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34209972..34224281hg38UCSC Ensembl
Innerchr6:34177749..34192058hg19UCSC Ensembl
Innerchr6:34285727..34300036hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3814310
hg1914310
hg1814310
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965712
Supporting Variants
SamplesHGDP00456
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)nssv2405144
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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