A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538183



Internal ID15503244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:173409512..173501862hg38UCSC Ensembl
Innerchr4:174330663..174423013hg19UCSC Ensembl
Innerchr4:174567238..174659588hg18UCSC Ensembl
Innerchr4:174705393..174797743hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3892351
hg1992351
hg1892351
hg1792351
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461841
Supporting Variants
Samples1780862127_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)nssv538183
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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