A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1658284



Internal ID15458495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19372976..19505688hg38UCSC Ensembl
Innerchr7:19412599..19545311hg19UCSC Ensembl
Innerchr7:19379124..19511836hg18UCSC Ensembl
Innerchr7:19185839..19318551hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38132713
hg19132713
hg18132713
hg17132713
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442033
Supporting Variants
SamplesNA07348
Known Genes
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)nssv1658284
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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