A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542092



Internal ID15503497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:129176634..129204660hg38UCSC Ensembl
Innerchr9:131938913..131966939hg19UCSC Ensembl
Innerchr9:130978734..131006760hg18UCSC Ensembl
Innerchr9:129018467..129046493hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3828027
hg1928027
hg1828027
hg1728027
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466578
Supporting Variants
Samples1780862304_A
Known GenesIER5L
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)nssv542092
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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