A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2413420



Internal ID17874703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73372554..73377049hg38UCSC Ensembl
Innerchr6:74082277..74086772hg19UCSC Ensembl
Innerchr6:74138998..74143493hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg384496
hg194496
hg184496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969419
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)nssv2413420
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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