A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946521



Internal ID18246685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179184069..179187257hg38UCSC Ensembl
Innerchr1:179153204..179156392hg19UCSC Ensembl
Innerchr1:177419827..177423015hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg383189
hg193189
hg183189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1808156, nssv1808159, nssv1807024, nssv1808160, nssv1808158, nssv1808157, nssv1808154, nssv1808155, nssv1807025, nssv1808153
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesABL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946521
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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