A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542717



Internal ID15513003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196853900..196925196hg38UCSC Ensembl
Innerchr1:196823030..196894326hg19UCSC Ensembl
Innerchr1:195089653..195160949hg18UCSC Ensembl
Innerchr1:193554687..193625983hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3871297
hg1971297
hg1871297
hg1771297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467417
Supporting Variants
SamplesNINDS_92
Known GenesCFHR4
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)nssv542717
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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