A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1644303



Internal ID15153108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10430768..10443520hg38UCSC Ensembl
Innerchr12:10583367..10596119hg19UCSC Ensembl
Innerchr12:10474634..10487386hg18UCSC Ensembl
Innerchr12:10474634..10487386hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3812753
hg1912753
hg1812753
hg1712753
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442633
Supporting Variants
SamplesNA19223
Known GenesKLRC2
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)nssv1644303
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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