A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542970



Internal ID15502803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:26640143..26652486hg38UCSC Ensembl
Innerchr11:26661690..26674033hg19UCSC Ensembl
Innerchr11:26618266..26630609hg18UCSC Ensembl
Innerchr11:26618266..26630609hg17UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg3812344
hg1912344
hg1812344
hg1712344
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467779
Supporting Variants
Samples1780854538_A
Known GenesANO3
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)nssv542970
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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