A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978131



Internal ID18266650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30257796..30336055hg38UCSC Ensembl
Innerchr16:30269117..30347376hg19UCSC Ensembl
Innerchr16:30176618..30254877hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3878260
hg1978260
hg1878260
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2056612, nssv2056610, nssv2056606, nssv2056611, nssv2056614, nssv2056605, nssv2056613, nssv2056607, nssv2056608, nssv2056609
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC440354, LOC595101
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978131
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer