A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960814



Internal ID18249375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:22596547..22604305hg38UCSC Ensembl
Innerchr19:22779349..22787107hg19UCSC Ensembl
Innerchr19:22571189..22578947hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg387759
hg197759
hg187759
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2142079, nssv2142083, nssv2142076, nssv2142078, nssv2142075, nssv2142074, nssv2142081, nssv2142080, nssv2142077, nssv2142082
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC440518
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960814
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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