A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698547



Internal ID15088513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171780525..171785931hg38UCSC Ensembl
Innerchr1:171749665..171755071hg19UCSC Ensembl
Innerchr1:170016288..170021694hg18UCSC Ensembl
Innerchr1:168481322..168486728hg17UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg385407
hg195407
hg185407
hg175407
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522889
Supporting Variants
Samples
Known GenesMETTL13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698547
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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