A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441985



Internal ID15154018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:11074069..11076965hg38UCSC Ensembl
Innerchr6:11074302..11077198hg19UCSC Ensembl
Innerchr6:11182288..11185184hg18UCSC Ensembl
Innerchr6:11182288..11185184hg17UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg382897
hg192897
hg182897
hg172897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658043, nssv1658042, nssv1658044
SamplesNA18542, NA18620, NA18997
Known GenesELOVL2-AS1
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)nsv441985
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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