A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048434



Internal ID19137653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:19935812..19956028hg38UCSC Ensembl
Innerchr16:19947134..19967350hg19UCSC Ensembl
Innerchr16:19854635..19874851hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3820217
hg1920217
hg1820217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2789n100
Supporting Variantsnssv3547057, nssv3547066, nssv3719276, nssv3719272, nssv3719274, nssv3547059, nssv3547073, nssv3719277, nssv3547061, nssv3547058, nssv3547063, nssv3547060, nssv3547064, nssv3547067, nssv3547068, nssv3547071, nssv3719278, nssv3547062, nssv3547072, nssv3547065, nssv3719273, nssv3719275, nssv3547069, nssv3719279, nssv3547070
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048434
Frequency
Sample Size11257
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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