A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041



Internal ID15198918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:51325852..51352515hg38UCSC Ensembl
Outerchr13:51899988..51926651hg19UCSC Ensembl
Outerchr13:50797989..50824652hg18UCSC Ensembl
Outerchr13:50797989..50824652hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg385404
hg195404
hg185404
hg175404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9124, nssv9991
SamplesNA12156, NA18956
Known GenesMIR5693, SERPINE3
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)nsv1041
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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