A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1628507



Internal ID15141832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53108689..53113609hg38UCSC Ensembl
Innerchr5:52404519..52409439hg19UCSC Ensembl
Innerchr5:52440276..52445196hg18UCSC Ensembl
Innerchr5:52440276..52445196hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384921
hg194921
hg184921
hg174921
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442948
Supporting Variants
SamplesNA18991
Known GenesLOC257396, MOCS2
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nssv1628507
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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