A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3161



Internal ID8514725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:216452373..216486604hg38UCSC Ensembl
Outerchr2:217317096..217351327hg19UCSC Ensembl
Outerchr2:217025341..217059572hg18UCSC Ensembl
Outerchr2:217142602..217176833hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg385209
hg195209
hg185209
hg175209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7618
SamplesNA12156
Known GenesSMARCAL1
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)nsv3161
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