A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1658280



Internal ID15479734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16309218..16362489hg38UCSC Ensembl
Innerchr7:16348843..16402114hg19UCSC Ensembl
Innerchr7:16315368..16368639hg18UCSC Ensembl
Innerchr7:16122083..16175354hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3853272
hg1953272
hg1853272
hg1753272
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442031
Supporting Variants
SamplesNA18635
Known GenesISPD
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)nssv1658280
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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