A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967775



Internal ID18603003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99899892..99900982hg38UCSC Ensembl
Innerchr4:100821049..100822139hg19UCSC Ensembl
Innerchr4:101040072..101041162hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg381091
hg191091
hg181091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2329320, nssv2329319, nssv2329326, nssv2329318, nssv2329322, nssv2329317, nssv2329323, nssv2329324, nssv2329325, nssv2329321
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNAJB14
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967775
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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