A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv724



Internal ID15552229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57526682..57569754hg38UCSC Ensembl
Outerchr12:57920465..57963537hg19UCSC Ensembl
Outerchr12:56206732..56249804hg18UCSC Ensembl
Outerchr12:56206732..56249804hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg384458
hg194458
hg184458
hg174458
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1999, nssv4026
SamplesNA12878, NA18555
Known GenesDCTN2, KIF5A, MBD6
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)nsv724
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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