A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541983



Internal ID15510162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188795412..188901352hg38UCSC Ensembl
Innerchr1:188764543..188870483hg19UCSC Ensembl
Innerchr1:187031166..187137106hg18UCSC Ensembl
Innerchr1:185496200..185602140hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38105941
hg19105941
hg18105941
hg17105941
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466439
Supporting Variants
SamplesHGDP01199
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)nssv541983
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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