A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679126



Internal ID15069092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238150843..238152125hg38UCSC Ensembl
Innerchr2:239059484..239060766hg19UCSC Ensembl
Innerchr2:238724223..238725505hg18UCSC Ensembl
Innerchr2:238841484..238842766hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381283
hg191283
hg181283
hg171283
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517412
Supporting Variants
Samples
Known GenesKLHL30
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679126
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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