A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1635070



Internal ID15134182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143521875..143870966hg38UCSC Ensembl
Innerchr7:143218968..143568059hg19UCSC Ensembl
Innerchr7:142929090..143198992hg18UCSC Ensembl
Innerchr7:142735805..143005707hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38349092
hg19349092
hg18269903
hg17269903
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442210
Supporting Variants
SamplesNA18856
Known GenesCTAGE15, CTAGE6, EPHA1-AS1, FAM115A, FAM115C, LOC154761
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)nssv1635070
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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