A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148744



Internal ID19199218
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 StatusM
Merged Variants
Supporting Variantsnssv3997540
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)nsv1148744
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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