A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699934



Internal ID15089900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76949809..76954144hg38UCSC Ensembl
Innerchr17:74945891..74950226hg19UCSC Ensembl
Innerchr17:72457486..72461821hg18UCSC Ensembl
Innerchr17:72457486..72461821hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg384336
hg194336
hg184336
hg174336
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524066
Supporting Variants
Samples
Known GenesMGAT5B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699934
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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