A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061194



Internal ID19150413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35232188..35495270hg38UCSC Ensembl
Innerchr16:34466559..34729641hg19UCSC Ensembl
Innerchr16:34324060..34587142hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38263083
hg19263083
hg18263083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3556138, nssv3556135, nssv3556132, nssv3556133, nssv3556137, nssv3556140, nssv3556136, nssv3556141, nssv3556134, nssv3556142, nssv3722252, nssv3556139
Samples
Known GenesLOC146481, LOC283914
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061194
Frequency
Sample Size11257
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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