A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946417



Internal ID18246581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155560150..155563352hg38UCSC Ensembl
Innerchr1:155529941..155533143hg19UCSC Ensembl
Innerchr1:153796565..153799767hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg383203
hg193203
hg183203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1799386, nssv1799391, nssv1799387, nssv1799383, nssv1799390, nssv1799389, nssv1799392, nssv1799388, nssv1799384, nssv1799385
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesASH1L, ASH1L-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946417
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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