A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7247



Internal ID15205551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:100288052..100861940hg38UCSC Ensembl
Outerchr13:100940306..101514194hg19UCSC Ensembl
Outerchr13:99738307..100312195hg18UCSC Ensembl
Outerchr13:99738307..100312195hg17UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38573889
hg19573889
hg18573889
hg17573889
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10002
SamplesNA18956
Known GenesGGACT, NALCN-AS1, PCCA, PCCA-AS1, TMTC4
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)nsv7247
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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