A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000704



Internal ID16946970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45409686..45560386hg38UCSC Ensembl
Outerchr21:46829601..46980300hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38150701
hg19150700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953653
Supporting Variants
SamplesBILGI_BIOE
Known GenesCOL18A1, COL18A1-AS1, COL18A1-AS2, MIR6815, SLC19A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000704
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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