A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893



Internal ID8517730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107798053..107831595hg38UCSC Ensembl
Outerchr7:107438498..107472040hg19UCSC Ensembl
Outerchr7:107225734..107259276hg18UCSC Ensembl
Outerchr7:107032449..107065991hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg385738
hg195738
hg185738
hg175738
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5014
SamplesNA19129
Known GenesSLC26A3
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)nsv5893
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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