A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442860



Internal ID15501579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52994360..53007503hg38UCSC Ensembl
Innerchr3:53028376..53041519hg19UCSC Ensembl
Innerchr3:53003416..53016559hg18UCSC Ensembl
Innerchr3:53003416..53016559hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3813144
hg1913144
hg1813144
hg1713144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1623036, nssv1622140, nssv1622436, nssv1621699, nssv1623022, nssv1621760, nssv1622613, nssv1622903, nssv1621977, nssv1622255, nssv1622599, nssv1622371, nssv1621884, nssv1622503, nssv1621667, nssv1622907, nssv1622485, nssv1623054, nssv1621999, nssv1622374
SamplesNA18621, NA12801, NA12248, NA18633, NA07357, NA18940, NA12812, NA18558, NA11994, NA18956, NA12239, NA12144, NA06985, NA18632, NA11882, NA06991, NA10861, NA07055, NA18609, NA11832
Known GenesSFMBT1
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)nsv442860
Frequency
Sample Size270
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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