A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1633218



Internal ID15477236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19139109..19141077hg38UCSC Ensembl
Innerchr7:19178732..19180700hg19UCSC Ensembl
Innerchr7:19145257..19147225hg18UCSC Ensembl
Innerchr7:18951972..18953940hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg381969
hg191969
hg181969
hg171969
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441853
Supporting Variants
SamplesNA18592
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)nssv1633218
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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