A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523220



Internal ID8417495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99873222..99878838hg38UCSC Ensembl
Innerchr1:100338778..100344394hg19UCSC Ensembl
Innerchr1:100111366..100116982hg18UCSC Ensembl
Innerchr1:100050799..100056415hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg385617
hg195617
hg185617
hg175617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698942
Samples
Known GenesAGL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523220
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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