A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129313



Internal ID18929983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7035386..7054271hg38UCSC Ensembl
Outerchr19:7035397..7054282hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3818886
hg1918886
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1701n106
Supporting Variantsnssv3962746
SamplesKWS1
Known GenesMBD3L2, MBD3L4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129313
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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