A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983370



Internal ID18271878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120461464..120462831hg38UCSC Ensembl
Innerchr12:120899267..120900634hg19UCSC Ensembl
Innerchr12:119383650..119385017hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381368
hg191368
hg181368
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1945559, nssv1945552, nssv1945556, nssv1945551, nssv1945560, nssv1945554, nssv1945553, nssv1945558, nssv1945555, nssv1945557
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGATC, SRSF9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983370
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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