A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461640



Internal ID15521705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130041108..130082450hg38UCSC Ensembl
Innerchr4:130962263..131003605hg19UCSC Ensembl
Innerchr4:131181713..131223055hg18UCSC Ensembl
Innerchr4:131319868..131361210hg17UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3841343
hg1941343
hg1841343
hg1741343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538008
SamplesNINDS_183
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)nsv461640
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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