A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538191



Internal ID15505538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:180454477..180500068hg38UCSC Ensembl
Innerchr4:181375630..181421221hg19UCSC Ensembl
Innerchr4:181612624..181658215hg18UCSC Ensembl
Innerchr4:181750779..181796370hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3845592
hg1945592
hg1845592
hg1745592
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461852
Supporting Variants
SamplesHGDP00150
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)nssv538191
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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