A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10001



Internal ID15542796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:92958294..92969814hg38UCSC Ensembl
Outerchr13:93610547..93622067hg19UCSC Ensembl
Outerchr13:92408548..92420068hg18UCSC Ensembl
Outerchr13:92408548..92420068hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg388206
hg198206
hg188206
hg178206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127
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)nssv10001
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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