A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048116



Internal ID18790647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:11342133..11449038hg38UCSC Ensembl
Innerchr16:11435990..11542894hg19UCSC Ensembl
Innerchr16:11343491..11450395hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38106906
hg19106905
hg18106905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2728n100
Supporting Variantsnssv3557134
Samples
Known GenesRMI2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048116
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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