A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970182



Internal ID18605406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:157299198..157300290hg38UCSC Ensembl
Innerchr6:157720230..157721322hg19UCSC Ensembl
Innerchr6:157640218..157641310hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381093
hg191093
hg181093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2427846, nssv2427849, nssv2427843, nssv2427851, nssv2427850, nssv2427844, nssv2427845, nssv2427852, nssv2427848, nssv2427847
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTMEM242
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970182
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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