A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2416602



Internal ID17773881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80065828..80070062hg38UCSC Ensembl
Innerchr6:80775545..80779779hg19UCSC Ensembl
Innerchr6:80832264..80836498hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg384235
hg194235
hg184235
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970144
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2416602
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer