A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9994



Internal ID15541911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:60865424..60879880hg38UCSC Ensembl
Outerchr13:61439558..61454014hg19UCSC Ensembl
Outerchr13:60337559..60352015hg18UCSC Ensembl
Outerchr13:60337559..60352015hg17UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg387198
hg197198
hg187198
hg177198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1067
Supporting Variants
SamplesNA18956
Known Genes
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)nssv9994
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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