A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965765



Internal ID18600995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:129156688..129159250hg38UCSC Ensembl
Innerchr6:129477833..129480395hg19UCSC Ensembl
Innerchr6:129519526..129522088hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg382563
hg192563
hg182563
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2423544, nssv2421970, nssv2421972, nssv2423545, nssv2421969, nssv2421968, nssv2421971, nssv2421973, nssv2423546, nssv2423543
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLAMA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965765
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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