A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000684



Internal ID16946950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42580291..42590290hg38UCSC Ensembl
Outerchr21:44000401..44010400hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3810000
hg1910000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953633
Supporting Variants
SamplesBILGI_BIOE
Known GenesSLC37A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000684
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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