A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464627



Internal ID15178006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88975337..89024571hg38UCSC Ensembl
Innerchr7:88604651..88653885hg19UCSC Ensembl
Innerchr7:88442587..88491821hg18UCSC Ensembl
Innerchr7:88249302..88298536hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3849235
hg1949235
hg1849235
hg1749235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540516
Samples1788485381_A
Known GenesZNF804B
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv464627
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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