A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428293



Internal ID18278057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20747949..21063624hg38UCSC Ensembl
Innerchr14:21216108..21531783hg19UCSC Ensembl
Innerchr14:20285948..20601623hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38315676
hg19315676
hg18315676
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452473, nssv452470, nssv452469, nssv452468, nssv452471, nssv452472, nssv452475
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00476, HGDP00460, NA19108, HGDP00472
Known GenesECRP, EDDM3A, EDDM3B, METTL17, MIR6717, NDRG2, RNASE1, RNASE13, RNASE2, RNASE3, RNASE6, RNASE7, RNASE8, SLC39A2, TPPP2
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)nsv428293
Frequency
Sample Size62
Observed Gain1
Observed Loss6
Observed Complex0
Frequencyn/a


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