A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7316



Internal ID15205627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:86775205..87058495hg38UCSC Ensembl
Outerchr2:87002328..87285618hg19UCSC Ensembl
Outerchr2:86855839..87139129hg18UCSC Ensembl
Outerchr2:86913986..87197276hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38283291
hg19283291
hg18283291
hg17283291
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6851
SamplesNA12156
Known GenesANAPC1P1, CD8A, CD8B, LOC285074, PLGLB1, PLGLB2, RGPD1, RGPD2, RMND5A
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)nsv7316
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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