A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969453



Internal ID18604680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:146603448..146604984hg38UCSC Ensembl
Innerchr6:146924584..146926120hg19UCSC Ensembl
Innerchr6:146966277..146967813hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg381537
hg191537
hg181537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2424888, nssv2424891, nssv2424887, nssv2424889, nssv2424886, nssv2424894, nssv2424895, nssv2424890, nssv2424893, nssv2424892
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesADGB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969453
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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