A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464346



Internal ID15524411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:9337425..9376645hg38UCSC Ensembl
Innerchr7:9377055..9416275hg19UCSC Ensembl
Innerchr7:9343580..9382800hg18UCSC Ensembl
Innerchr7:9150295..9189515hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3839221
hg1939221
hg1839221
hg1739221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540276
SamplesNINDS_234
Known Genes
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)nsv464346
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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