A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv757



Internal ID15197588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:18364757..18398705hg38UCSC Ensembl
Outerchr10:18653686..18687634hg19UCSC Ensembl
Outerchr10:18693692..18727640hg18UCSC Ensembl
Outerchr10:18693692..18727640hg17UCSC Ensembl
Cytoband10p12.32
Allele length
AssemblyAllele length
hg387019
hg197019
hg187019
hg177019
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5977
Supporting Variants
SamplesNA19240
Known GenesCACNB2
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)nssv757
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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