A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454094



Internal ID18273199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129818076..130658259hg38UCSC Ensembl
Innerchr2:130575649..131415832hg19UCSC Ensembl
Innerchr2:130292119..131132302hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38840184
hg19840184
hg18840184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428403
Supporting Variants
SamplesHGDP00460
Known GenesCCDC115, CCDC74B, CFC1, CFC1B, CYP4F62P, FAR2P1, FAR2P2, IMP4, LOC389033, LOC646743, MED15P9, MZT2B, POTEF, POTEI, POTEJ, PTPN18, RAB6C, RAB6C-AS1, SMPD4, TISP43, TUBA3E
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)nssv454094
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer