A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997719



Internal ID16943985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:32036695..32043494hg38UCSC Ensembl
Outerchr5:32036801..32043600hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950664
Supporting Variants
SamplesBILGI_BIOE
Known GenesPDZD2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997719
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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