A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040394



Internal ID19129613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18545386..18737254hg38UCSC Ensembl
Innerchr16:18556708..18748576hg19UCSC Ensembl
Innerchr16:18464209..18656077hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38191869
hg19191869
hg18191869
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2786n100
Supporting Variantsnssv3558130, nssv3716928, nssv3716925, nssv3558125, nssv3558132, nssv3716926, nssv3558128, nssv3558123, nssv3558124, nssv3558127, nssv3716927, nssv3558129, nssv3558131, nssv3558122, nssv3558133, nssv3558126
Samples
Known GenesABCC6P1, NOMO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040394
Frequency
Sample Size11257
Observed Gain12
Observed Loss4
Observed Complex0
Frequencyn/a


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