A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1655302



Internal ID15456425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:63237757..63285949hg38UCSC Ensembl
InnerchrX:62457637..62505826hg19UCSC Ensembl
InnerchrX:62374362..62422551hg18UCSC Ensembl
InnerchrX:62240658..62288847hg17UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg3848193
hg1948190
hg1848190
hg1748190
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442807
Supporting Variants
SamplesNA06985
Known Genes
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)nssv1655302
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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