A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950747



Internal ID17299621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181323700..181332199hg38UCSC Ensembl
Outerchr5:180750701..180759200hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997917
SamplesBILGI_BIOE
Known GenesLOC100132062, LOC100132287, LOC100133331
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950747
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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