A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2410317



Internal ID17737665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:53233522..53236518hg38UCSC Ensembl
Innerchr6:53098320..53101316hg19UCSC Ensembl
Innerchr6:53206279..53209275hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg382997
hg192997
hg182997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965725
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)nssv2410317
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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