A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7314



Internal ID15552311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:85342891..85358702hg38UCSC Ensembl
Outerchr2:85570014..85585825hg19UCSC Ensembl
Outerchr2:85423525..85439336hg18UCSC Ensembl
Outerchr2:85481672..85497483hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3815812
hg1915812
hg1815812
hg1715812
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1510
SamplesNA19240
Known GenesELMOD3, RETSAT
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)nsv7314
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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