A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5024



Internal ID15203106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138439431..138469706hg38UCSC Ensembl
Outerchr5:137775120..137805395hg19UCSC Ensembl
Outerchr5:137803019..137833294hg18UCSC Ensembl
Outerchr5:137803019..137833294hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg389224
hg199224
hg189224
hg179224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10476
SamplesNA18956
Known GenesEGR1, REEP2
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)nsv5024
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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