A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537723



Internal ID15511794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:31752825..31807078hg38UCSC Ensembl
Innerchr4:31754447..31808700hg19UCSC Ensembl
Innerchr4:31363545..31417795hg18UCSC Ensembl
Innerchr4:31430716..31484966hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3854254
hg1954254
hg1854251
hg1754251
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461318
Supporting Variants
SamplesNINDS_147
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)nssv537723
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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