A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961207



Internal ID18596453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:30037332..30043924hg38UCSC Ensembl
Innerchr19:30528239..30534831hg19UCSC Ensembl
Innerchr19:35220079..35226671hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg386593
hg196593
hg186593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2143000, nssv2142999, nssv2142997, nssv2143001, nssv2142998, nssv2142993, nssv2142996, nssv2142992, nssv2142995, nssv2142994
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961207
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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