A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703811



Internal ID15093777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150554878..150569652hg38UCSC Ensembl
Innerchr1:150527354..150542128hg19UCSC Ensembl
Innerchr1:148793978..148808752hg18UCSC Ensembl
Innerchr1:147340427..147355201hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3814775
hg1914775
hg1814775
hg1714775
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527379
Supporting Variants
Samples
Known GenesADAMTSL4, ADAMTSL4-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703811
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer