A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442056



Internal ID15154089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88041424..88043077hg38UCSC Ensembl
Innerchr7:87670739..87672392hg19UCSC Ensembl
Innerchr7:87508675..87510328hg18UCSC Ensembl
Innerchr7:87315390..87317043hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381654
hg191654
hg181654
hg171654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658411, nssv1658410, nssv1658413, nssv1658414, nssv1658409, nssv1658412
SamplesNA10831, NA10863, NA12234, NA12156, NA10835, NA12248
Known GenesADAM22
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)nsv442056
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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