A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521613



Internal ID15102220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:185102699..185202737hg38UCSC Ensembl
Innerchr1:185071831..185171869hg19UCSC Ensembl
Innerchr1:183338454..183438492hg18UCSC Ensembl
Innerchr1:181803488..181903526hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38100039
hg19100039
hg18100039
hg17100039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698231
Samples
Known GenesSWT1, TRMT1L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521613
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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