A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945281



Internal ID18245469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212050330..212052008hg38UCSC Ensembl
Innerchr1:212223672..212225350hg19UCSC Ensembl
Innerchr1:210290295..210291973hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381679
hg191679
hg181679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1817683, nssv1817682, nssv1817687, nssv1817679, nssv1817685, nssv1817686, nssv1817681, nssv1817680, nssv1817684, nssv1817678
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDTL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945281
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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