A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543954



Internal ID15503132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:872764..996975hg38UCSC Ensembl
Innerchr2:868450..992661hg19UCSC Ensembl
Innerchr2:858450..982661hg18UCSC Ensembl
Innerchr2:858450..982661hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38124212
hg19124212
hg18124212
hg17124212
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468905
Supporting Variants
Samples1780862089_A
Known GenesSNTG2
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)nssv543954
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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