A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2725



Internal ID15200602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:51046194..51067339hg38UCSC Ensembl
Outerchr2:51273332..51294477hg19UCSC Ensembl
Outerchr2:51126836..51147981hg18UCSC Ensembl
Outerchr2:51184983..51206128hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg387340
hg197340
hg187340
hg177340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6839
SamplesNA12156
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)nsv2725
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