A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1546



Internal ID15545531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:155555092..155589458hg38UCSC Ensembl
Outerchr2:156411604..156445970hg19UCSC Ensembl
Outerchr2:156119850..156154216hg18UCSC Ensembl
Outerchr2:156237112..156271478hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg386608
hg196608
hg186608
hg176608
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2985
Supporting Variants
SamplesNA19240
Known Genes
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)nssv1546
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