A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540412



Internal ID15157430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10613137..10707728hg38UCSC Ensembl
Innerchr1:10673194..10767785hg19UCSC Ensembl
Innerchr1:10595781..10690372hg18UCSC Ensembl
Innerchr1:10607460..10702051hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3894592
hg1994592
hg1894592
hg1794592
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464505
Supporting Variants
Samples1780862573_A
Known GenesCASZ1, PEX14
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)nssv540412
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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