A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945921



Internal ID18592771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45650843..45652464hg38UCSC Ensembl
Innerchr1:46116515..46118136hg19UCSC Ensembl
Innerchr1:45889102..45890723hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381622
hg191622
hg181622
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1761518, nssv1761520, nssv1761517, nssv1761522, nssv1761523, nssv1761519, nssv1761524, nssv1761521, nssv1761515, nssv1761516
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGPBP1L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945921
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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