A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537108



Internal ID15512761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15360563..15423721hg38UCSC Ensembl
Innerchr1:15687059..15750217hg19UCSC Ensembl
Innerchr1:15559646..15622804hg18UCSC Ensembl
Innerchr1:15432365..15495523hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3863159
hg1963159
hg1863159
hg1763159
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460561
Supporting Variants
SamplesNINDS_60
Known GenesEFHD2, FHAD1
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)nssv537108
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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