A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450652



Internal ID18620242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31956167..32125066hg38UCSC Ensembl
Innerchr6:31923944..32092843hg19UCSC Ensembl
Innerchr6:32031923..32200821hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38168900
hg19168900
hg18168899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428141
Supporting Variants
SamplesHGDP00472
Known GenesATF6B, C4A, C4B, C4B_2, CYP21A1P, CYP21A2, DXO, 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)nssv450652
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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