A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453277



Internal ID18273442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89216635..90057294hg38UCSC Ensembl
Innerchr16:89283043..90123702hg19UCSC Ensembl
Innerchr16:87810544..88651203hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38840660
hg19840660
hg18840660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428331
Supporting Variants
SamplesHGDP00467
Known GenesAFG3L1P, ANKRD11, C16orf3, CDK10, CENPBD1, CHMP1A, CPNE7, DBNDD1, DEF8, DPEP1, FANCA, GAS8, LOC100287036, MC1R, PRDM7, RPL13, SNORD68, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TUBB3, URAHP, VPS9D1, VPS9D1-AS1, ZNF276, ZNF778
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)nssv453277
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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