A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142001



Internal ID19251536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:109353479..109353556hg38UCSC Ensembl
Outerchr5:108689180..108689257hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993513
SamplesKWS2
Known GenesPJA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142001
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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