A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520628



Internal ID15101235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225838705..225905662hg38UCSC Ensembl
Innerchr1:226026406..226093362hg19UCSC Ensembl
Innerchr1:224093029..224159985hg18UCSC Ensembl
Innerchr1:222333141..222400097hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3866958
hg1966957
hg1866957
hg1766957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697156, nssv694659, nssv674868, nssv673330, nssv685769
Samples
Known GenesEPHX1, LEFTY1, TMEM63A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520628
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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