A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516432



Internal ID15097039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230280292..230281548hg38UCSC Ensembl
Innerchr1:230416038..230417294hg19UCSC Ensembl
Innerchr1:228482661..228483917hg18UCSC Ensembl
Innerchr1:226722773..226724029hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381257
hg191257
hg181257
hg171257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672780, nssv661344, nssv655622, nssv694339, nssv683156, nssv668326
Samples
Known GenesGALNT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516432
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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