A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969457



Internal ID18604684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:150825099..150828610hg38UCSC Ensembl
Innerchr6:151146235..151149746hg19UCSC Ensembl
Innerchr6:151187928..151191439hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383512
hg193512
hg183512
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2428675, nssv2428677, nssv2428676, nssv2428674, nssv2428678, nssv2428680, nssv2428672, nssv2428679, nssv2428673, nssv2428671
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPLEKHG1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969457
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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