A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2393885



Internal ID17744193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:6793024..6795298hg38UCSC Ensembl
Innerchr6:6793257..6795531hg19UCSC Ensembl
Innerchr6:6738256..6740530hg18UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg382275
hg192275
hg182275
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965677
Supporting Variants
SamplesHGDP00521
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)nssv2393885
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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