A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705360



Internal ID15095326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167468716..167600493hg38UCSC Ensembl
Innerchr1:167437953..167569730hg19UCSC Ensembl
Innerchr1:165704577..165836354hg18UCSC Ensembl
Innerchr1:164169611..164301388hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38131778
hg19131778
hg18131778
hg17131778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528710
Supporting Variants
Samples
Known GenesCD247, CREG1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705360
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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