A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979830



Internal ID18615031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50421157..50422531hg38UCSC Ensembl
Innerchr3:50458588..50459962hg19UCSC Ensembl
Innerchr3:50433592..50434966hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381375
hg191375
hg181375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2282603, nssv2282604, nssv2282598, nssv2282602, nssv2282601, nssv2282600, nssv2282605, nssv2282599, nssv2282606, nssv2282607
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCACNA2D2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979830
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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