A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048321



Internal ID19137540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:19934316..19958920hg38UCSC Ensembl
Innerchr16:19945638..19970242hg19UCSC Ensembl
Innerchr16:19853139..19877743hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3824605
hg1924605
hg1824605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2791n100
Supporting Variantsnssv3546821, nssv3546844, nssv3546835, nssv3546829, nssv3546840, nssv3546826, nssv3546837, nssv3546830, nssv3546850, nssv3546823, nssv3719243, nssv3546847, nssv3546846, nssv3546833, nssv3546839, nssv3546824, nssv3546845, nssv3546822, nssv3546841, nssv3546825, nssv3546843, nssv3546848, nssv3546834, nssv3546849, nssv3546831, nssv3546842, nssv3546836, nssv3719245, nssv3719242, nssv3546838, nssv3546832, nssv3546827, nssv3546828, nssv3719244
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)nsv1048321
Frequency
Sample Size11257
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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