A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537606



Internal ID15512100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:4341513..4353653hg38UCSC Ensembl
Innerchr4:4343240..4355380hg19UCSC Ensembl
Innerchr4:4394141..4406281hg18UCSC Ensembl
Innerchr4:4461312..4473452hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3812141
hg1912141
hg1812141
hg1712141
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461176
Supporting Variants
SamplesNINDS_20
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)nssv537606
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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