A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538725



Internal ID15507993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99064602..99083790hg38UCSC Ensembl
Innerchr1:99530158..99549346hg19UCSC Ensembl
Innerchr1:99302746..99321934hg18UCSC Ensembl
Innerchr1:99242179..99261367hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3819189
hg1919189
hg1819189
hg1719189
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462605
Supporting Variants
SamplesHGDP00749
Known GenesLOC100129620
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)nssv538725
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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