A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1656860



Internal ID15495743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210431402..210439180hg38UCSC Ensembl
Innerchr1:210604746..210612524hg19UCSC Ensembl
Innerchr1:208671369..208679147hg18UCSC Ensembl
Innerchr1:206993141..207000919hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg387779
hg197779
hg187779
hg177779
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441734
Supporting Variants
SamplesNA19160
Known GenesHHAT
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)nssv1656860
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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