A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2707



Internal ID15547270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:43558018..43586739hg38UCSC Ensembl
Outerchr2:43785157..43813878hg19UCSC Ensembl
Outerchr2:43638661..43667382hg18UCSC Ensembl
Outerchr2:43696808..43725529hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3810769
hg1910769
hg1810769
hg1710769
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10211
SamplesNA18956
Known GenesTHADA
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)nsv2707
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