A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520354



Internal ID15447647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:213472501..213478805hg38UCSC Ensembl
Innerchr1:213645844..213652148hg19UCSC Ensembl
Innerchr1:211712467..211718771hg18UCSC Ensembl
Innerchr1:210034239..210040543hg17UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg386305
hg196305
hg186305
hg176305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663143, nssv677840, nssv677183, nssv679184
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520354
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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