A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036808



Internal ID18779339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21348981..21828019hg38UCSC Ensembl
Innerchr16:21360302..21839340hg19UCSC Ensembl
Innerchr16:21267803..21746841hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38479039
hg19479039
hg18479039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2800n100
Supporting Variantsnssv3548052, nssv3548053
Samples
Known GenesIGSF6, LOC100190986, LOC100271836, METTL9, NPIPB3, OTOA, RRN3P1, SLC7A5P2, SNX29P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1036808
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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