A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700304



Internal ID15090270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44698642..44699855hg38UCSC Ensembl
Innerchr21:46118557..46119770hg19UCSC Ensembl
Innerchr21:44942985..44944198hg18UCSC Ensembl
Innerchr21:44942985..44944198hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381214
hg191214
hg181214
hg171214
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524387
Supporting Variants
Samples
Known GenesTSPEAR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700304
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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