A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428319



Internal ID18278083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16219969..16829931hg38UCSC Ensembl
Innerchr16:16313826..16923788hg19UCSC Ensembl
Innerchr16:16221327..16831289hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38609963
hg19609963
hg18609963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452957
SamplesHGDP00473
Known GenesABCC6, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
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)nsv428319
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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