A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946416



Internal ID18593266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155434345..155435687hg38UCSC Ensembl
Innerchr1:155404136..155405478hg19UCSC Ensembl
Innerchr1:153670760..153672102hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg381343
hg191343
hg181343
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1799303, nssv1799308, nssv1799305, nssv1799307, nssv1799312, nssv1799306, nssv1799310, nssv1799311, nssv1799309, nssv1799304
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesASH1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946416
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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