A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460305



Internal ID15173684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:228838..275462hg38UCSC Ensembl
Innerchr3:270521..317145hg19UCSC Ensembl
Innerchr3:245521..292145hg18UCSC Ensembl
Innerchr3:245521..292145hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3846625
hg1946625
hg1846625
hg1746625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536906
SamplesNINDS_208
Known GenesCHL1
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)nsv460305
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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