A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538348



Internal ID15509966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77437926..77485775hg38UCSC Ensembl
Innerchr1:77903611..77951460hg19UCSC Ensembl
Innerchr1:77676199..77724048hg18UCSC Ensembl
Innerchr1:77615632..77663481hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3847850
hg1947850
hg1847850
hg1747850
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462095
Supporting Variants
SamplesHGDP01164
Known GenesAK5
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)nssv538348
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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