A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540506



Internal ID15511668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:83142079..83202742hg38UCSC Ensembl
Innerchr7:82771395..82832058hg19UCSC Ensembl
Innerchr7:82609331..82669994hg18UCSC Ensembl
Innerchr7:82416046..82476709hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3860664
hg1960664
hg1860664
hg1760664
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464614
Supporting Variants
SamplesNINDS_127
Known GenesPCLO
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)nssv540506
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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