A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540020



Internal ID15155594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153060930..153126869hg38UCSC Ensembl
Innerchr1:153033406..153099345hg19UCSC Ensembl
Innerchr1:151300030..151365969hg18UCSC Ensembl
Innerchr1:149846479..149912418hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3865940
hg1965940
hg1865940
hg1765940
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464017
Supporting Variants
Samples1780854279_A
Known GenesSPRR2B, SPRR2E, SPRR2F
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)nssv540020
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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