A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538018



Internal ID15503397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:136840332..136893149hg38UCSC Ensembl
Innerchr4:137761486..137814303hg19UCSC Ensembl
Innerchr4:137980936..138033753hg18UCSC Ensembl
Innerchr4:138119091..138171908hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3852818
hg1952818
hg1852818
hg1752818
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461657
Supporting Variants
Samples1780862227_A
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)nssv538018
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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