A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428331



Internal ID18278095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89216635..90185980hg38UCSC Ensembl
Innerchr16:89283043..90252388hg19UCSC Ensembl
Innerchr16:87810544..88779889hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38969346
hg19969346
hg18969346
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453282, nssv453278, nssv453284, nssv453290, nssv453283, nssv453277, nssv453285, nssv453280, nssv453279, nssv453281
SamplesHGDP00463, HGDP01093, NA19096, NA19181, HGDP01089, NA19189, HGDP00467, NA18498, NA19113, HGDP00460
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)nsv428331
Frequency
Sample Size62
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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