A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519567



Internal ID15446860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228963742..228976886hg38UCSC Ensembl
Innerchr2:229828458..229841602hg19UCSC Ensembl
Innerchr2:229536702..229549846hg18UCSC Ensembl
Innerchr2:229653963..229667107hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3813145
hg1913145
hg1813145
hg1713145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694335
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519567
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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