A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv476



Internal ID15198470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:70457076..71107818hg38UCSC Ensembl
Outerchr5:69752903..70403645hg19UCSC Ensembl
Outerchr5:69788659..70439401hg18UCSC Ensembl
Outerchr5:69788659..70439401hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38650743
hg19650743
hg18650743
hg17650743
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7371
Supporting Variants
SamplesNA19240
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
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)nssv476
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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