A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464436



Internal ID15177815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39979094..40093445hg38UCSC Ensembl
Innerchr7:40018693..40133044hg19UCSC Ensembl
Innerchr7:39985218..40099569hg18UCSC Ensembl
Innerchr7:39791933..39906284hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38114352
hg19114352
hg18114352
hg17114352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540353
Samples1780854393_A
Known GenesCDK13
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)nsv464436
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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