A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950637



Internal ID17299511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2751087..2755886hg38UCSC Ensembl
Outerchr5:2751201..2756000hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997694
SamplesBILGI_BIOE
Known GenesC5orf38, IRX2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950637
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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