A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058461



Internal ID19147680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35237109..35514321hg38UCSC Ensembl
Innerchr16:34471480..34748692hg19UCSC Ensembl
Innerchr16:34328981..34606193hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38277213
hg19277213
hg18277213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3558702
Samples
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058461
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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