A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148



Internal ID15199025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:100691554..100726195hg38UCSC Ensembl
Outerchr13:101343808..101378449hg19UCSC Ensembl
Outerchr13:100141809..100176450hg18UCSC Ensembl
Outerchr13:100141809..100176450hg17UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg386356
hg196356
hg186356
hg176356
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1166
SamplesNA19240
Known GenesNALCN-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)nsv1148
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