A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541114



Internal ID15512079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10707845..10755364hg38UCSC Ensembl
Innerchr1:10767902..10815421hg19UCSC Ensembl
Innerchr1:10690489..10738008hg18UCSC Ensembl
Innerchr1:10702168..10749687hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3847520
hg1947520
hg1847520
hg1747520
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465283
Supporting Variants
SamplesNINDS_198
Known GenesCASZ1
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)nssv541114
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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