A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945940



Internal ID18246104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51250600..51254219hg38UCSC Ensembl
Innerchr1:51716272..51719891hg19UCSC Ensembl
Innerchr1:51488860..51492479hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383620
hg193620
hg183620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1767270, nssv1767271, nssv1767273, nssv1767269, nssv1767275, nssv1767274, nssv1767276, nssv1767268, nssv1767267, nssv1767272
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRNF11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945940
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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