A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694944



Internal ID15431596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238531469..238558789hg38UCSC Ensembl
Innerchr2:239440110..239467430hg19UCSC Ensembl
Innerchr2:239104849..239132169hg18UCSC Ensembl
Innerchr2:239222110..239249430hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3827321
hg1927321
hg1827321
hg1727321
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522171
Supporting Variants
Samples
Known GenesLINC01107
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694944
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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