A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050753



Internal ID18793284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21401070..21580007hg38UCSC Ensembl
Innerchr16:21412391..21591328hg19UCSC Ensembl
Innerchr16:21319892..21498829hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38178938
hg19178938
hg18178938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2801n100
Supporting Variantsnssv3548056
Samples
Known GenesLOC100190986, LOC100271836, NPIPB3, SLC7A5P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050753
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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