A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457311



Internal ID15170690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:681725..761746hg38UCSC Ensembl
Innerchr16:731725..811746hg19UCSC Ensembl
Innerchr16:671726..751747hg18UCSC Ensembl
Innerchr16:671726..751747hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3880022
hg1980022
hg1880022
hg1780022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534525
Samples1780862416_A
Known GenesCCDC78, FAM173A, FBXL16, HAGHL, JMJD8, METRN, MSLN, NARFL, STUB1, WDR24
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)nsv457311
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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