A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460744



Internal ID15520809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:84477262..84581154hg38UCSC Ensembl
Innerchr3:84526413..84630305hg19UCSC Ensembl
Innerchr3:84609103..84712995hg18UCSC Ensembl
Innerchr3:84609103..84712995hg17UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38103893
hg19103893
hg18103893
hg17103893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537259
Samples1780862432_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)nsv460744
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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