A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538434



Internal ID15502556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:80071113..80217921hg38UCSC Ensembl
Innerchr1:80536798..80683606hg19UCSC Ensembl
Innerchr1:80309386..80456194hg18UCSC Ensembl
Innerchr1:80248819..80395627hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38146809
hg19146809
hg18146809
hg17146809
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462217
Supporting Variants
Samples1780854449_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)nssv538434
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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