A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997540



Internal ID18846863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54271501..54644076hg38UCSC Ensembl
Outerchr19:54775355..55155527hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38372576
hg19380173
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148744
Supporting Variants
SamplesKWB1
Known GenesCDC42EP5, KIR3DX1, LAIR1, LAIR2, LENG8, LENG9, LILRA1, LILRA2, LILRA3, LILRA4, LILRA5, LILRB1, LILRB2, MIR4752, TTYH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997540
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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