A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464635



Internal ID15524700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:90537591..90585619hg38UCSC Ensembl
Innerchr7:90166905..90214933hg19UCSC Ensembl
Innerchr7:90004841..90052869hg18UCSC Ensembl
Innerchr7:89811556..89859584hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3848029
hg1948029
hg1848029
hg1748029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv826n27
Supporting Variantsnssv540523
SamplesHGDP00776
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)nsv464635
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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