A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538052



Internal ID15511486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:157619223..157643128hg38UCSC Ensembl
Innerchr4:158540375..158564280hg19UCSC Ensembl
Innerchr4:158759825..158783730hg18UCSC Ensembl
Innerchr4:158897980..158921885hg17UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3823906
hg1923906
hg1823906
hg1723906
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461695
Supporting Variants
SamplesNINDS_103
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)nssv538052
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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