A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576070



Internal ID16016793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76902475..76916424hg38UCSC Ensembl
Innerchr17:74898557..74912506hg19UCSC Ensembl
Innerchr17:72410152..72424101hg18UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3813950
hg1913950
hg1813950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv876221
Samples
Known GenesMGAT5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576070
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer