A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946422



Internal ID18593272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155746429..155752445hg38UCSC Ensembl
Innerchr1:155716220..155722236hg19UCSC Ensembl
Innerchr1:153982844..153988860hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg386017
hg196017
hg186017
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1800590, nssv1800592, nssv1800586, nssv1800587, nssv1800588, nssv1800584, nssv1800591, nssv1800583, nssv1800585, nssv1800589
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGON4L, MSTO2P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946422
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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