A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534743



Internal ID15155491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83996684..84005144hg38UCSC Ensembl
Innerchr16:84030289..84038749hg19UCSC Ensembl
Innerchr16:82587790..82596250hg18UCSC Ensembl
Innerchr16:82587790..82596250hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg388461
hg198461
hg188461
hg178461
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457593
Supporting Variants
Samples1780854206_A
Known GenesNECAB2
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)nssv534743
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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