A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1617728



Internal ID15147497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25266637..25335514hg38UCSC Ensembl
Innerchr1:25593128..25662005hg19UCSC Ensembl
Innerchr1:25465715..25534592hg18UCSC Ensembl
Innerchr1:25338444..25407321hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3868878
hg1968878
hg1868878
hg1768878
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442830
Supporting Variants
SamplesNA19141
Known GenesRHD
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)nssv1617728
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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