A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960778



Internal ID18249339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7031332..7059045hg38UCSC Ensembl
Innerchr19:7031343..7059056hg19UCSC Ensembl
Innerchr19:6982343..7010056hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3827714
hg1927714
hg1827714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2129109, nssv2129112, nssv2129105, nssv2129107, nssv2129108, nssv2129113, nssv2129114, nssv2129110, nssv2129111, nssv2129106
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMBD3L2, MBD3L3, MBD3L4, MBD3L5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960778
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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