A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970139



Internal ID18258677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:69702871..69706146hg38UCSC Ensembl
Innerchr6:70412763..70416038hg19UCSC Ensembl
Innerchr6:70469484..70472759hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg383276
hg193276
hg183276
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2414040, nssv2414045, nssv2414043, nssv2414047, nssv2414046, nssv2414044, nssv2414041, nssv2414048, nssv2414039, nssv2414042
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLMBRD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970139
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