A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534561



Internal ID15166293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4960912..5284683hg38UCSC Ensembl
Innerchr16:5010913..5334684hg19UCSC Ensembl
Innerchr16:4950914..5274685hg18UCSC Ensembl
Innerchr16:4950914..5274685hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38323772
hg19323772
hg18323772
hg17323772
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457360
Supporting Variants
SamplesNINDS_90
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, SEC14L5
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)nssv534561
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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