A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2023



Internal ID15199900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30245788..30260021hg38UCSC Ensembl
Outerchr17:28572806..28587039hg19UCSC Ensembl
Outerchr17:25596932..25611165hg18UCSC Ensembl
Outerchr17:25596932..25611165hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3825781
hg1925781
hg1825781
hg1725781
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2171
SamplesNA18555
Known GenesBLMH
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)nsv2023
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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