A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945950



Internal ID18246114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52919760..52920764hg38UCSC Ensembl
Innerchr1:53385432..53386436hg19UCSC Ensembl
Innerchr1:53158020..53159024hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381005
hg191005
hg181005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1767645, nssv1768464, nssv1767640, nssv1768465, nssv1768462, nssv1767642, nssv1767641, nssv1768463, nssv1767643, nssv1767644
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesECHDC2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945950
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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