A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975907



Internal ID18611114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:43854974..43856294hg38UCSC Ensembl
Innerchr11:43876524..43877844hg19UCSC Ensembl
Innerchr11:43833100..43834420hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381321
hg191321
hg181321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1882890, nssv1882891, nssv1882889, nssv1882892, nssv1882896, nssv1882894, nssv1882893, nssv1882888, nssv1882895, nssv1882897
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSD17B12
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975907
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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