A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527218



Internal ID15454511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230610148..230613900hg38UCSC Ensembl
Innerchr1:230745894..230749646hg19UCSC Ensembl
Innerchr1:228812517..228816269hg18UCSC Ensembl
Innerchr1:227052629..227056381hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383753
hg193753
hg183753
hg173753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27n21
Supporting Variantsnssv703618
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527218
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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