A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044732



Internal ID19133951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35815..60707hg38UCSC Ensembl
Innerchr16:85815..110705hg19UCSC Ensembl
Innerchr16:25815..50705hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3824893
hg1924891
hg1824891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3556940
Samples
Known GenesPOLR3K, RHBDF1, SNRNP25
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044732
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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