A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694685



Internal ID15084651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76949809..76950204hg38UCSC Ensembl
Innerchr17:74945891..74946286hg19UCSC Ensembl
Innerchr17:72457486..72457881hg18UCSC Ensembl
Innerchr17:72457486..72457881hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg38396
hg19396
hg18396
hg17396
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521914
Supporting Variants
Samples
Known GenesMGAT5B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694685
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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