A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441702



Internal ID15500421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134229617..134236065hg38UCSC Ensembl
Innerchr6:134550755..134557203hg19UCSC Ensembl
Innerchr6:134592448..134598896hg18UCSC Ensembl
Innerchr6:134592448..134598896hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg386449
hg196449
hg186449
hg176449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1632798, nssv1632792, nssv1632762, nssv1632796, nssv1632772, nssv1632766, nssv1632790, nssv1632791, nssv1632767, nssv1632768, nssv1632786, nssv1632763, nssv1632777, nssv1632793, nssv1632797, nssv1632782, nssv1632764, nssv1632775, nssv1632771, nssv1632788, nssv1632769, nssv1632794, nssv1632781, nssv1632773, nssv1632770, nssv1632789, nssv1632795, nssv1632776, nssv1632765, nssv1632780, nssv1632774, nssv1632787, nssv1632783, nssv1632779, nssv1632778, nssv1632785, nssv1632761, nssv1632784
SamplesNA18592, NA18633, NA07357, NA18563, NA19005, NA18944, NA18940, NA18550, NA10846, NA18547, NA18960, NA18970, NA11994, NA18966, NA18990, NA18605, NA07022, NA12003, NA18956, NA18991, NA18529, NA18537, NA18566, NA19000, NA18853, NA12145, NA18570, NA18608, NA18978, NA18542, NA07348, NA12763, NA18971, NA18609, NA18968, NA07000, NA18577, NA18620
Known GenesSGK1
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)nsv441702
Frequency
Sample Size270
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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