A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129318



Internal ID18918888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7035377..7053992hg38UCSC Ensembl
Outerchr19:7035388..7054003hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3818616
hg1918616
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1701n106
Supporting Variantsnssv3962751
SamplesKWS1
Known GenesMBD3L2, MBD3L4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129318
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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