A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441737



Internal ID15153770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:217116783..217120986hg38UCSC Ensembl
Innerchr1:217290125..217294328hg19UCSC Ensembl
Innerchr1:215356748..215360951hg18UCSC Ensembl
Innerchr1:213678520..213682723hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384204
hg194204
hg184204
hg174204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656884, nssv1656887, nssv1656886, nssv1656885
SamplesNA07056, NA06993, NA07019, NA06991
Known GenesESRRG
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)nsv441737
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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