A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1627004



Internal ID15147713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150955199..150963146hg38UCSC Ensembl
Innerchr4:151876351..151884298hg19UCSC Ensembl
Innerchr4:152095801..152103748hg18UCSC Ensembl
Innerchr4:152233956..152241903hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg387948
hg197948
hg187948
hg177948
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442923
Supporting Variants
SamplesNA19142
Known GenesLRBA
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)nssv1627004
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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