A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969351



Internal ID18604578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:17530842..17531842hg38UCSC Ensembl
Innerchr6:17531073..17532073hg19UCSC Ensembl
Innerchr6:17639052..17640052hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2394520, nssv2394521, nssv2394517, nssv2394525, nssv2394522, nssv2394518, nssv2394526, nssv2394524, nssv2394523, nssv2394519
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCAP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969351
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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