A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140250



Internal ID19270580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:23379881..23799828hg38UCSC Ensembl
Outerchr19:23562683..23982630hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38419948
hg19419948
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1741n106
Supporting Variantsnssv3978963
SamplesKWS2
Known GenesRPSAP58, ZNF675, ZNF681, ZNF91
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140250
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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