A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537716



Internal ID15504158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:25555425..25576891hg38UCSC Ensembl
Innerchr4:25557047..25578513hg19UCSC Ensembl
Innerchr4:25166145..25187611hg18UCSC Ensembl
Innerchr4:25233316..25254782hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3821467
hg1921467
hg1821467
hg1721467
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461308
Supporting Variants
Samples1780862577_A
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)nssv537716
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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