A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946054



Internal ID18246218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88981278..88983739hg38UCSC Ensembl
Innerchr1:89446961..89449422hg19UCSC Ensembl
Innerchr1:89219549..89222010hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382462
hg192462
hg182462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1776022, nssv1776018, nssv1776021, nssv1776023, nssv1776024, nssv1776020, nssv1776019, nssv1776025, nssv1776016, nssv1776017
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCBL2, RBMXL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946054
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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