A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946412



Internal ID18593262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155234505..155238170hg38UCSC Ensembl
Innerchr1:155204296..155207961hg19UCSC Ensembl
Innerchr1:153470920..153474585hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg383666
hg193666
hg183666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1800772, nssv1800767, nssv1800773, nssv1800770, nssv1800774, nssv1800765, nssv1800771, nssv1800769, nssv1800766, nssv1800768
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGBA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946412
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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