A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945909



Internal ID18592759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42888569..42892272hg38UCSC Ensembl
Innerchr1:43354240..43357943hg19UCSC Ensembl
Innerchr1:43126827..43130530hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383704
hg193704
hg183704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1761784, nssv1761775, nssv1761776, nssv1761780, nssv1761783, nssv1761779, nssv1761777, nssv1761778, nssv1761781, nssv1761782
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC339539
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945909
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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