A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945288



Internal ID18592139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215499121..215499856hg38UCSC Ensembl
Innerchr1:215672464..215673199hg19UCSC Ensembl
Innerchr1:213739087..213739822hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38736
hg19736
hg18736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1816832, nssv2605207, nssv2605211, nssv1816838, nssv2605209, nssv1816837, nssv1816829, nssv1816836, nssv2605204, nssv2605206, nssv1816831, nssv2605205, nssv1816834, nssv2605210, nssv2605213, nssv2605212, nssv1816835, nssv1816833, nssv2605208, nssv1816830
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945288
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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