A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534386



Internal ID15502552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:46801652..46852188hg38UCSC Ensembl
Innerchr15:47093850..47144386hg19UCSC Ensembl
Innerchr15:44881142..44931678hg18UCSC Ensembl
Innerchr15:44881142..44931678hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3850537
hg1950537
hg1850537
hg1750537
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457127
Supporting Variants
Samples1780854449_A
Known GenesMIR548A3
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)nssv534386
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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