A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7371



Internal ID15205688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:70438702..71107818hg38UCSC Ensembl
Outerchr5:69734529..70403645hg19UCSC Ensembl
Outerchr5:69770285..70439401hg18UCSC Ensembl
Outerchr5:69770285..70439401hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38669117
hg19669117
hg18669117
hg17669117
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2525, nssv476
SamplesNA19240, NA18555
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)nsv7371
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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