A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2714



Internal ID5091404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46591714..46623312hg19UCSC Ensembl
Outerchr2:46445218..46476816hg18UCSC Ensembl
Outerchr2:46503365..46534963hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg197841
hg187841
hg177841
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv6835
SamplesNA12156
Known GenesEPAS1
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)nsv2714
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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