A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062345



Internal ID19151564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35232188..35494739hg38UCSC Ensembl
Innerchr16:34466559..34729110hg19UCSC Ensembl
Innerchr16:34324060..34586611hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38262552
hg19262552
hg18262552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3556131
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)nsv1062345
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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