A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535122



Internal ID15502604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:52970314..53062713hg38UCSC Ensembl
Innerchr18:50496684..50589083hg19UCSC Ensembl
Innerchr18:48750682..48843081hg18UCSC Ensembl
Innerchr18:48750682..48843081hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3892400
hg1992400
hg1892400
hg1792400
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458080
Supporting Variants
Samples1780854464_A
Known GenesDCC
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)nssv535122
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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