A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997685



Internal ID16943951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1008886..1300685hg38UCSC Ensembl
Outerchr5:1009001..1300800hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38291800
hg19291800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950627
Supporting Variants
SamplesBILGI_BIOE
Known GenesMIR4635, NKD2, SLC12A7, SLC6A18, SLC6A19, TERT
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997685
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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