A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946415



Internal ID18246579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155433845..155434345hg38UCSC Ensembl
Innerchr1:155403636..155404136hg19UCSC Ensembl
Innerchr1:153670260..153670760hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1799206, nssv1799210, nssv1799208, nssv1799212, nssv1799214, nssv1799207, nssv1799213, nssv1799209, nssv1799215, nssv1799211
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesASH1L, POU5F1P4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946415
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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