A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576068



Internal ID16016791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76838238..76880546hg38UCSC Ensembl
Innerchr17:74834320..74876628hg19UCSC Ensembl
Innerchr17:72345915..72388223hg18UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3842309
hg1942309
hg1842309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149811
SamplesHGDP00846
Known GenesMGAT5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576068
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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