A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700967



Internal ID15437619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230685738..230686014hg38UCSC Ensembl
Innerchr1:230821484..230821760hg19UCSC Ensembl
Innerchr1:228888107..228888383hg18UCSC Ensembl
Innerchr1:227128219..227128495hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
hg17277
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524949
Supporting Variants
Samples
Known GenesCOG2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700967
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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