A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946145



Internal ID18246309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112923635..112924435hg38UCSC Ensembl
Innerchr1:113466257..113467057hg19UCSC Ensembl
Innerchr1:113267780..113268580hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38801
hg19801
hg18801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1782949, nssv1782946, nssv1782941, nssv1782950, nssv1782943, nssv1782942, nssv1782947, nssv1782945, nssv1782948, nssv1782944
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAKR7A2P1, SLC16A1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946145
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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