A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2160



Internal ID15546723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81004381..81017741hg38UCSC Ensembl
Outerchr17:78978181..78991541hg19UCSC Ensembl
Outerchr17:76592776..76606136hg18UCSC Ensembl
Outerchr17:76592776..76606136hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3813076
hg1913076
hg1813076
hg1713076
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5682
SamplesNA19129
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)nsv2160
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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