A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537964



Internal ID15512264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:96275885..96344909hg38UCSC Ensembl
Innerchr4:97197036..97266060hg19UCSC Ensembl
Innerchr4:97416059..97485083hg18UCSC Ensembl
Innerchr4:97554214..97623238hg17UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3869025
hg1969025
hg1869025
hg1769025
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461590
Supporting Variants
SamplesNINDS_222
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)nssv537964
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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