A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950442



Internal ID16952629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:172454097..172454596hg38UCSC Ensembl
Outerchr5:171881101..171881600hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997875
SamplesBILGI_BIOE
Known GenesSH3PXD2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950442
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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