A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542430



Internal ID15163254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192394185..193552205hg38UCSC Ensembl
Innerchr1:192363315..193521335hg19UCSC Ensembl
Innerchr1:190629938..191787958hg18UCSC Ensembl
Innerchr1:189094972..190252992hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg381158021
hg191158021
hg181158021
hg171158021
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466994
Supporting Variants
SamplesHGDP01156
Known GenesB3GALT2, CDC73, GLRX2, MIR1278, RGS1, RGS13, RGS2, TROVE2, UCHL5
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)nssv542430
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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