A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057132



Internal ID18799663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55555463..55605628hg38UCSC Ensembl
Innerchr16:55589375..55639540hg19UCSC Ensembl
Innerchr16:54146876..54197041hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3850166
hg1950166
hg1850166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2984n100
Supporting Variantsnssv3559287
Samples
Known GenesCAPNS2, LPCAT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057132
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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