A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428283



Internal ID18278047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57435950..57608085hg38UCSC Ensembl
Innerchr12:57829733..58001868hg19UCSC Ensembl
Innerchr12:56116000..56288135hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38172136
hg19172136
hg18172136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452296, nssv452298, nssv452300, nssv452299, nssv452301
SamplesNA19257, NA19108, HGDP01087, NA19096, NA19113
Known GenesARHGAP9, DCTN2, DDIT3, DTX3, GLI1, INHBC, INHBE, KIF5A, MARS, MBD6, MIR6758, PIP4K2C
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)nsv428283
Frequency
Sample Size62
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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