A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945916



Internal ID18592766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45016435..45020013hg38UCSC Ensembl
Innerchr1:45482107..45485685hg19UCSC Ensembl
Innerchr1:45254694..45258272hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383579
hg193579
hg183579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1760922, nssv1760921, nssv1760918, nssv1760920, nssv1760927, nssv1760925, nssv1760919, nssv1760926, nssv1760924, nssv1760923
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZSWIM5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945916
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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