A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540061



Internal ID15161827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154865320..154932364hg38UCSC Ensembl
Innerchr1:154837796..154904840hg19UCSC Ensembl
Innerchr1:153104420..153171464hg18UCSC Ensembl
Innerchr1:151650869..151717913hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3867045
hg1967045
hg1867045
hg1767045
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464073
Supporting Variants
SamplesHGDP00857
Known GenesKCNN3, PMVK
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)nssv540061
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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