A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442067



Internal ID15500786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:121521933..121546239hg38UCSC Ensembl
Innerchr7:121161987..121186293hg19UCSC Ensembl
Innerchr7:120949223..120973529hg18UCSC Ensembl
Innerchr7:120755938..120780244hg17UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3824307
hg1924307
hg1824307
hg1724307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658475, nssv1658477, nssv1658476
SamplesNA18947, NA18968, NA18623
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)nsv442067
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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