A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2703



Internal ID15541873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:110139637..110146705hg38UCSC Ensembl
Outerchr5:109475338..109482406hg19UCSC Ensembl
Outerchr5:109503237..109510305hg18UCSC Ensembl
Outerchr5:109503237..109510305hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg386110
hg196110
hg186110
hg176110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4956
Supporting Variants
SamplesNA18555
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)nssv2703
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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