A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538197



Internal ID15157264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184907523..185314394hg38UCSC Ensembl
Innerchr4:185828677..186235548hg19UCSC Ensembl
Innerchr4:186065671..186472542hg18UCSC Ensembl
Innerchr4:186203826..186610697hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38406872
hg19406872
hg18406872
hg17406872
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461859
Supporting Variants
Samples1780862466_A
Known GenesHELT, KIAA1430, SLC25A4, SNX25
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)nssv538197
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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