A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056346



Internal ID19145565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35232188..35496532hg38UCSC Ensembl
Innerchr16:34466559..34730903hg19UCSC Ensembl
Innerchr16:34324060..34588404hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38264345
hg19264345
hg18264345
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3556147, nssv3556146, nssv3556144, nssv3556143, nssv3556145
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)nsv1056346
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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