A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523592



Internal ID15104199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34991263..34991805hg38UCSC Ensembl
Innerchr21:36363560..36364102hg19UCSC Ensembl
Innerchr21:35285430..35285972hg18UCSC Ensembl
Innerchr21:35285430..35285972hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38543
hg19543
hg18543
hg17543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699383
Samples
Known GenesRUNX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523592
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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