A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3016



Internal ID15547583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:165597434..165627905hg38UCSC Ensembl
Outerchr2:166453944..166484415hg19UCSC Ensembl
Outerchr2:166162190..166192661hg18UCSC Ensembl
Outerchr2:166279451..166309922hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg388814
hg198814
hg188814
hg178814
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5833
SamplesNA19129
Known GenesCSRNP3
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)nsv3016
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