A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978101



Internal ID18266620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18428014..18575158hg38UCSC Ensembl
Innerchr16:18521871..18586480hg19UCSC Ensembl
Innerchr16:18429372..18493981hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38147145
hg1964610
hg1864610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2050583, nssv2050587, nssv2050581, nssv2050582, nssv2050579, nssv2050578, nssv2050580, nssv2050586, nssv2050584, nssv2050585
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesABCC6P1, NOMO2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978101
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