A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705652



Internal ID15095618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230111817..230128212hg38UCSC Ensembl
Innerchr1:230247564..230263959hg19UCSC Ensembl
Innerchr1:228314187..228330582hg18UCSC Ensembl
Innerchr1:226554299..226570694hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3816396
hg1916396
hg1816396
hg1716396
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528956
Supporting Variants
Samples
Known GenesGALNT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705652
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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