A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000697



Internal ID16946963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44279118..44523117hg38UCSC Ensembl
Outerchr21:45699001..45943000hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38244000
hg19244000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953646
Supporting Variants
SamplesBILGI_BIOE
Known GenesAIRE, C21orf2, C21orf90, LRRC3, LRRC3-AS1, PFKL, TRPM2, TSPEAR, TSPEAR-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000697
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer