A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441693



Internal ID15153726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53022778..53024068hg38UCSC Ensembl
Innerchr1:53488450..53489740hg19UCSC Ensembl
Innerchr1:53261038..53262328hg18UCSC Ensembl
Innerchr1:53200471..53201761hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381291
hg191291
hg181291
hg171291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656656, nssv1656658, nssv1656662, nssv1656661, nssv1656657, nssv1656663, nssv1656659, nssv1656660
SamplesNA18861, NA18871, NA18855, NA19129, NA19101, NA19128, NA19099, NA19205
Known GenesSCP2
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)nsv441693
Frequency
Sample Size270
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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