A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537305



Internal ID15512895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21923096..21958002hg38UCSC Ensembl
Innerchr1:22249589..22284495hg19UCSC Ensembl
Innerchr1:22122176..22157082hg18UCSC Ensembl
Innerchr1:21994895..22029801hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3834907
hg1934907
hg1834907
hg1734907
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460795
Supporting Variants
SamplesNINDS_74
Known GenesHSPG2
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)nssv537305
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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