A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988



Internal ID15204166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:18466842..18500378hg38UCSC Ensembl
Outerchr10:18755771..18789307hg19UCSC Ensembl
Outerchr10:18795777..18829313hg18UCSC Ensembl
Outerchr10:18795777..18829313hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg385742
hg195742
hg185742
hg175742
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5250
SamplesNA19129
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)nsv5988
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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