A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2654



Internal ID8514199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:27309443..27336770hg38UCSC Ensembl
Outerchr2:27532311..27559637hg19UCSC Ensembl
Outerchr2:27385815..27413141hg18UCSC Ensembl
Outerchr2:27443962..27471288hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3813666
hg1913666
hg1813666
hg1713666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1485
SamplesNA19240
Known GenesGTF3C2, LOC100505624, MPV17
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)nsv2654
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