A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538097



Internal ID15504909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66490195..66503401hg38UCSC Ensembl
Innerchr1:66955878..66969084hg19UCSC Ensembl
Innerchr1:66728466..66741672hg18UCSC Ensembl
Innerchr1:66667899..66681105hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3813207
hg1913207
hg1813207
hg1713207
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461740
Supporting Variants
Samples1798860592_A
Known Genes
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)nssv538097
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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