A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538532



Internal ID15512262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104311313..104389369hg38UCSC Ensembl
Innerchr5:103647014..103725070hg19UCSC Ensembl
Innerchr5:103674913..103752969hg18UCSC Ensembl
Innerchr5:103674913..103752969hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3878057
hg1978057
hg1878057
hg1778057
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462336
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)nssv538532
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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