A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442075



Internal ID15154108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146436775..146442816hg38UCSC Ensembl
Innerchr7:146133867..146139908hg19UCSC Ensembl
Innerchr7:145764800..145770841hg18UCSC Ensembl
Innerchr7:145571515..145577556hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg386042
hg196042
hg186042
hg176042
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658505, nssv1658510, nssv1658503, nssv1658504, nssv1658507, nssv1658501, nssv1658499, nssv1658500, nssv1658498, nssv1658508, nssv1658509, nssv1658502, nssv1658506
SamplesNA19137, NA18914, NA18612, NA19093, NA19223, NA18516, NA18507, NA18856, NA19172, NA19119, NA19139, NA18857, NA18913
Known GenesCNTNAP2
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)nsv442075
Frequency
Sample Size270
Observed Gain1
Observed Loss12
Observed Complex0
Frequencyn/a


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