A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978773



Internal ID18613976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12277315..12285214hg38UCSC Ensembl
Innerchr19:12388130..12396029hg19UCSC Ensembl
Innerchr19:12249130..12257029hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg387900
hg197900
hg187900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2133987, nssv2133991, nssv2133990, nssv2133986, nssv2133995, nssv2133992, nssv2133994, nssv2133988, nssv2133989, nssv2133993
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF44
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978773
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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