A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945943



Internal ID18592793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52083085..52083585hg38UCSC Ensembl
Innerchr1:52548757..52549257hg19UCSC Ensembl
Innerchr1:52321345..52321845hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1767353, nssv1767350, nssv1767355, nssv1767354, nssv1767348, nssv1767347, nssv1767356, nssv1767352, nssv1767351, nssv1767349
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBTF3L4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945943
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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