A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694339



Internal ID15084305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230280292..230280472hg38UCSC Ensembl
Innerchr1:230416038..230416218hg19UCSC Ensembl
Innerchr1:228482661..228482841hg18UCSC Ensembl
Innerchr1:226722773..226722953hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38181
hg19181
hg18181
hg17181
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516432
Supporting Variants
Samples
Known GenesGALNT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694339
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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