A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428321



Internal ID18278085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:19742033..19876673hg38UCSC Ensembl
Innerchr16:19753355..19887995hg19UCSC Ensembl
Innerchr16:19660856..19795496hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38134641
hg19134641
hg18134641
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453004, nssv453005
SamplesHGDP00476, NA19096
Known GenesGPRC5B, IQCK
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)nsv428321
Frequency
Sample Size62
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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