A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978187



Internal ID18266706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14725053..14726727hg38UCSC Ensembl
Innerchr16:14818910..14820584hg19UCSC Ensembl
Innerchr16:14726411..14728085hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg381675
hg191675
hg181675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2630915, nssv2630909, nssv2630914, nssv2630911, nssv2630916, nssv2630910, nssv2630912, nssv2630907, nssv2630913, nssv2630908
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNPIPA2, NPIPA3
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978187
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