A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062946



Internal ID18805477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87635801..88019505hg38UCSC Ensembl
Innerchr16:87669407..88053111hg19UCSC Ensembl
Innerchr16:86226908..86610612hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38383705
hg19383705
hg18383705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719119
Samples
Known GenesBANP, CA5A, JPH3, KLHDC4, MIR6775, SLC7A5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062946
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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