A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067



Internal ID15545630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:60865424..60899500hg38UCSC Ensembl
Outerchr13:61439558..61473634hg19UCSC Ensembl
Outerchr13:60337559..60371635hg18UCSC Ensembl
Outerchr13:60337559..60371635hg17UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg386059
hg196059
hg186059
hg176059
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9132, nssv9994, nssv2040, nssv4075
SamplesNA12156, NA12878, NA18956, NA18555
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)nsv1067
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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