A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020791



Internal ID18763325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:50605969..50626760hg38UCSC Ensembl
Innerchr7:50673666..50694457hg19UCSC Ensembl
Innerchr7:50641160..50661951hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3820792
hg1920792
hg1820792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6347n100
Supporting Variantsnssv3661268
Samples
Known GenesGRB10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020791
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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