A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965801



Internal ID18254345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57919590..57920481hg38UCSC Ensembl
Innerchr6:58245868..58246759hg19UCSC Ensembl
Innerchr6:58353827..58354718hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg38892
hg19892
hg18892
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2706298, nssv2706295, nssv2706296, nssv2706292, nssv2706301, nssv2706299, nssv2706293, nssv2706297, nssv2706294, nssv2706300
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGUSBP4
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965801
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