A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979890



Internal ID18268405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151268968..151272461hg38UCSC Ensembl
Innerchr3:150986756..150990249hg19UCSC Ensembl
Innerchr3:152469446..152472939hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg383494
hg193494
hg183494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2301658, nssv2301657, nssv2301654, nssv2301661, nssv2301659, nssv2301653, nssv2301662, nssv2301660, nssv2301656, nssv2301655
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMED12L, P2RY14
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979890
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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