A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067050



Internal ID18809581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83990319..84039073hg38UCSC Ensembl
Innerchr16:84023924..84072678hg19UCSC Ensembl
Innerchr16:82581425..82630179hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3848755
hg1948755
hg1848755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719111
Samples
Known GenesNECAB2, SLC38A8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067050
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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