A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538189



Internal ID15512024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:180258392..180306168hg38UCSC Ensembl
Innerchr4:181179545..181227321hg19UCSC Ensembl
Innerchr4:181416539..181464315hg18UCSC Ensembl
Innerchr4:181554694..181602470hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3847777
hg1947777
hg1847777
hg1747777
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461850
Supporting Variants
SamplesNINDS_189
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)nssv538189
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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