A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428316



Internal ID18278080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:929650..1363252hg38UCSC Ensembl
Innerchr16:979650..1413253hg19UCSC Ensembl
Innerchr16:919651..1353254hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38433603
hg19433604
hg18433604
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452872, nssv452871, nssv452891, nssv452870
SamplesNA19257, NA19147, NA19225, NA19113
Known GenesBAIAP3, C1QTNF8, CACNA1H, GNPTG, LMF1, SOX8, SSTR5, SSTR5-AS1, TPSAB1, TPSB2, TPSD1, TPSG1, TSR3, UBE2I, UNKL
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428316
Frequency
Sample Size62
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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