A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945718



Internal ID18592569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:347969..355697hg38UCSC Ensembl
Innerchr1:463640..471368hg19UCSC Ensembl
Innerchr1:453503..461453hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg387729
hg197729
hg187951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1748202, nssv1748201, nssv2571734, nssv2571741, nssv1748203, nssv2571737, nssv1748207, nssv1748206, nssv2571740, nssv2571738, nssv1748205, nssv1748204, nssv2571743, nssv2571736, nssv2571739, nssv1748200, nssv2571742, nssv1748208, nssv1748199, nssv2571735
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)nsv945718
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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