A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945952



Internal ID18246116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52991971..52992971hg38UCSC Ensembl
Innerchr1:53457643..53458643hg19UCSC Ensembl
Innerchr1:53230231..53231231hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1767839, nssv1767833, nssv1767838, nssv1767836, nssv1767834, nssv1767837, nssv1767831, nssv1767832, nssv1767830, nssv1767835
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSCP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945952
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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