A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981164



Internal ID18616363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:87298967..87300566hg38UCSC Ensembl
Innerchr6:88008685..88010284hg19UCSC Ensembl
Innerchr6:88065404..88067003hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg381600
hg191600
hg181600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2417100, nssv2417093, nssv2417092, nssv2417096, nssv2417097, nssv2417091, nssv2417099, nssv2417095, nssv2417094, nssv2417098
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGJB7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981164
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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