A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441991



Internal ID15500710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75724865..75734920hg38UCSC Ensembl
Innerchr7:75354183..75364238hg19UCSC Ensembl
Innerchr7:75192119..75202174hg18UCSC Ensembl
Innerchr7:74998834..75008889hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3810056
hg1910056
hg1810056
hg1710056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1633949, nssv1633945, nssv1633954, nssv1633953, nssv1633955, nssv1633959, nssv1633956, nssv1633951, nssv1633957, nssv1633946, nssv1633948, nssv1633958, nssv1633950, nssv1633952, nssv1633947
SamplesNA11830, NA11829, NA12236, NA07029, NA10835, NA11992, NA12005, NA10839, NA12872, NA12249, NA12864, NA12873, NA06994, NA10860, NA07000
Known GenesHIP1
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)nsv441991
Frequency
Sample Size270
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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