A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2654



Internal ID5084139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:27532311..27559637hg19UCSC Ensembl
Outerchr2:27385815..27413141hg18UCSC Ensembl
Outerchr2:27443962..27471288hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg1913666
hg1813666
hg1713666
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1485
SamplesNA19240
Known GenesGTF3C2, LOC100505624, MPV17
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv2654
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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