A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2714



Internal ID8514259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46364575..46396173hg38UCSC Ensembl
Outerchr2:46591714..46623312hg19UCSC Ensembl
Outerchr2:46445218..46476816hg18UCSC Ensembl
Outerchr2:46503365..46534963hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387841
hg197841
hg187841
hg177841
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6835
SamplesNA12156
Known GenesEPAS1
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)nsv2714
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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