A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997783



Internal ID17290735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:76785676..76790375hg38UCSC Ensembl
Outerchr5:76081501..76086200hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950094
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997783
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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