A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428324



Internal ID18624774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22419254..22760988hg38UCSC Ensembl
Innerchr16:22430575..22772309hg19UCSC Ensembl
Innerchr16:22338076..22679810hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38341735
hg19341735
hg18341735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453013, nssv453029, nssv453018, nssv453026, nssv453015, nssv453024, nssv453012, nssv453021, nssv453036, nssv453035, nssv453022, nssv453011, nssv453030, nssv453033, nssv453028, nssv453027, nssv453025, nssv453034, nssv453016, nssv453014, nssv453023, nssv453032, nssv453017
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, NA18916, NA18498, NA19189, HGDP00460, HGDP00450, HGDP00986, NA19181, NA19113, NA19257, NA19225, NA19108, NA19147, HGDP01094, HGDP00984, HGDP00472, HGDP00471, NA19096, HGDP00449
Known GenesLOC100190986, LOC653786, MIR548AA2, MIR548D2, NPIPB5, RRN3P3, SMG1P1
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)nsv428324
Frequency
Sample Size62
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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