A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078889



Internal ID18979013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52690079..53366157hg38UCSC Ensembl
chr19:53193332..53869410hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38676079
hg19676079
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769883
SamplesKWP1
Known GenesBIRC8, ERVV-1, ERVV-2, FAM90A27P, VN1R2, VN1R4, ZNF160, ZNF28, ZNF320, ZNF321P, ZNF347, ZNF415, ZNF468, ZNF525, ZNF600, ZNF611, ZNF665, ZNF677, ZNF702P, ZNF816, ZNF816-ZNF321P, ZNF818P, ZNF83, ZNF845
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078889
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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