A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979155



Internal ID18614358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182763285..182767947hg38UCSC Ensembl
Innerchr2:183628012..183632674hg19UCSC Ensembl
Innerchr2:183336257..183340919hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg384663
hg194663
hg184663
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2213926, nssv2213921, nssv2213920, nssv2213927, nssv2213918, nssv2213919, nssv2213925, nssv2213922, nssv2213923, nssv2213924
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNAJC10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979155
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