A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033450



Internal ID19122672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76051175..76190114hg38UCSC Ensembl
Innerchr7:75680493..75819432hg19UCSC Ensembl
Innerchr7:75518429..75657368hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38138940
hg19138940
hg18138940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3656493
Samples
Known GenesMDH2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033450
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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