A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065543



Internal ID18808074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75597408..75766272hg38UCSC Ensembl
Innerchr16:75631306..75800170hg19UCSC Ensembl
Innerchr16:74188807..74357671hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38168865
hg19168865
hg18168865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559627
Samples
Known GenesADAT1, KARS, TERF2IP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065543
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