A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000683



Internal ID16946949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42383992..42389791hg38UCSC Ensembl
Outerchr21:43804101..43809900hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385800
hg195800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953632
Supporting Variants
SamplesBILGI_BIOE
Known GenesTMPRSS3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000683
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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