A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945951



Internal ID18246115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52942428..52943917hg38UCSC Ensembl
Innerchr1:53408100..53409589hg19UCSC Ensembl
Innerchr1:53180688..53182177hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381490
hg191490
hg181490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1767736, nssv1767733, nssv1767737, nssv1767735, nssv1767740, nssv1767739, nssv1767741, nssv1767742, nssv1767738, nssv1767734
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)nsv945951
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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