A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020181



Internal ID19109400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7409026..7445231hg38UCSC Ensembl
Innerchr7:7448657..7484862hg19UCSC Ensembl
Innerchr7:7415182..7451387hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3836206
hg1936206
hg1836206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655102, nssv3655103
Samples
Known GenesCOL28A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020181
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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