A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044993



Internal ID18787524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:11488714..11545144hg38UCSC Ensembl
Innerchr16:11582570..11639000hg19UCSC Ensembl
Innerchr16:11490071..11546501hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3856431
hg1956431
hg1856431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2729n100
Supporting Variantsnssv3557140
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044993
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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