A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7312



Internal ID15552309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54902627..54934378hg38UCSC Ensembl
Outerchr2:55129764..55161515hg19UCSC Ensembl
Outerchr2:54983268..55015019hg18UCSC Ensembl
Outerchr2:55041415..55073166hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3831752
hg1931752
hg1831752
hg1731752
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1495
SamplesNA19240
Known GenesEML6
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)nsv7312
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer