A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573412



Internal ID16014135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83966212..84010961hg38UCSC Ensembl
Innerchr16:83999817..84044566hg19UCSC Ensembl
Innerchr16:82557318..82602067hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3844750
hg1944750
hg1844750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5259n54
Supporting Variantsnssv861997
Samples
Known GenesNECAB2, OSGIN1, SLC38A8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573412
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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