A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700339



Internal ID15090305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43419273..43428190hg38UCSC Ensembl
Innerchr21:44839153..44848070hg19UCSC Ensembl
Innerchr21:43663581..43672498hg18UCSC Ensembl
Innerchr21:43663581..43672498hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388918
hg198918
hg188918
hg178918
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516339
Supporting Variants
Samples
Known GenesSIK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700339
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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