A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5102



Internal ID15549878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:162518176..162558875hg38UCSC Ensembl
Outerchr5:161945182..161985881hg19UCSC Ensembl
Outerchr5:161877760..161918459hg18UCSC Ensembl
Outerchr5:161877760..161918459hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg385808
hg195808
hg185808
hg175808
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3400, nssv2556, nssv509
SamplesNA12878, NA18555, NA19240
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)nsv5102
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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