A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970144



Internal ID18605368
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2416602, nssv2416600, nssv2416598, nssv2416596, nssv2416601, nssv2416605, nssv2416604, nssv2416603, nssv2416599, nssv2416597
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970144
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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