A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468950



Internal ID15529015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3597839..3629432hg38UCSC Ensembl
Innerchr2:3645429..3677022hg19UCSC Ensembl
Innerchr2:3623304..3654897hg18UCSC Ensembl
Innerchr2:3138798..3170391hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3831594
hg1931594
hg1831594
hg1731594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543982
Samples1780862444_A
Known GenesCOLEC11
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)nsv468950
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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