A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999283



Internal ID16945549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:53876841..53882740hg38UCSC Ensembl
Outerchr8:54789401..54795300hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951430
Supporting Variants
SamplesBILGI_BIOE
Known GenesRGS20
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999283
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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