A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981937



Internal ID18617133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:50754010..50766100hg38UCSC Ensembl
Innerchr8:51666570..51678660hg19UCSC Ensembl
Innerchr8:51829123..51841213hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3812091
hg1912091
hg1812091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2503793, nssv2503795, nssv2503792, nssv2503798, nssv2503796, nssv2503800, nssv2503799, nssv2503794, nssv2503797, nssv2503791
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSNTG1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981937
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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