A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2354



Internal ID15200231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110148781..110180477hg38UCSC Ensembl
Outerchr1:110691403..110723099hg19UCSC Ensembl
Outerchr1:110492926..110524622hg18UCSC Ensembl
Outerchr1:110403445..110435141hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg388047
hg198047
hg188047
hg178047
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4499
SamplesNA12878
Known GenesSLC6A17
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)nsv2354
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