A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538618



Internal ID15155502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140556654..140626201hg38UCSC Ensembl
Innerchr5:139936239..140005786hg19UCSC Ensembl
Innerchr5:139916423..139985970hg18UCSC Ensembl
Innerchr5:139916423..139985970hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3869548
hg1969548
hg1869548
hg1769548
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462462
Supporting Variants
Samples1780854215_A
Known GenesAPBB3, MIR6831, SLC35A4, SRA1
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)nssv538618
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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