A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538194



Internal ID15509645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:182275371..182308068hg38UCSC Ensembl
Innerchr4:183196524..183229221hg19UCSC Ensembl
Innerchr4:183433518..183466215hg18UCSC Ensembl
Innerchr4:183571673..183604370hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3832698
hg1932698
hg1832698
hg1732698
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv461856
Supporting Variants
SamplesHGDP01057
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)nssv538194
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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