A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945857



Internal ID18246021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:28742628..28743850hg38UCSC Ensembl
Innerchr1:29069140..29070362hg19UCSC Ensembl
Innerchr1:28941727..28942949hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381223
hg191223
hg181223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1758761, nssv1758763, nssv1758766, nssv1758762, nssv1758768, nssv1758767, nssv1758765, nssv1758769, nssv1758770, nssv1758764
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesYTHDF2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945857
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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