A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428141



Internal ID18624591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31903735..32125066hg38UCSC Ensembl
Innerchr6:31871512..32092843hg19UCSC Ensembl
Innerchr6:31979491..32200821hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38221332
hg19221332
hg18221331
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450649, nssv450648, nssv450652, nssv450650
SamplesHGDP00476, HGDP00473, HGDP00472, HGDP00449
Known GenesATF6B, C2, C4A, C4B, C4B_2, CFB, CYP21A1P, CYP21A2, DXO, LOC102060414, MIR1236, NELFE, SKIV2L, STK19, TNXA, TNXB
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)nsv428141
Frequency
Sample Size62
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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