A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969443



Internal ID18604670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:126681586..126692524hg38UCSC Ensembl
Innerchr6:127002731..127013669hg19UCSC Ensembl
Innerchr6:127044424..127055362hg18UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg3810939
hg1910939
hg1810939
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2422027, nssv2422021, nssv2422020, nssv2422024, nssv2422023, nssv2422026, nssv2422022, nssv2422025, nssv2422028, nssv2422019
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969443
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer