A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950672



Internal ID16952859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42423699..42425098hg38UCSC Ensembl
Outerchr5:42423801..42425200hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997726
SamplesBILGI_BIOE
Known GenesGHR
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950672
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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