A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133845



Internal ID18926029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:42277506..42277821hg38UCSC Ensembl
Outerchr1:42743177..42743492hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985288, nssv3970542
SamplesKWS1, KWS2
Known GenesFOXJ3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133845
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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