A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535718



Internal ID15156265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:58058263..58105307hg38UCSC Ensembl
Innerchr19:58569631..58616674hg19UCSC Ensembl
Innerchr19:63261443..63308486hg18UCSC Ensembl
Innerchr19:63261443..63308486hg17UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3847045
hg1947044
hg1847044
hg1747044
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458836
Supporting Variants
Samples1780862014_A
Known GenesZNF135, ZSCAN18
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)nssv535718
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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