A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3058



Internal ID15200943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178588367..178619126hg38UCSC Ensembl
Outerchr2:179453094..179483853hg19UCSC Ensembl
Outerchr2:179161340..179192098hg18UCSC Ensembl
Outerchr2:179278601..179309359hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg389257
hg199257
hg189257
hg179257
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2308
SamplesNA18555
Known GenesMIR548N, TTN, TTN-AS1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3058
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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