A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993394



Internal ID18885694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52978624..53338835hg38UCSC Ensembl
Outerchr19:53481877..53842088hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38360212
hg19360212
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141887
Supporting Variants
SamplesKWS2
Known GenesBIRC8, ERVV-1, ERVV-2, FAM90A27P, VN1R2, VN1R4, ZNF160, ZNF347, ZNF415, ZNF665, ZNF677, ZNF702P, ZNF818P, ZNF845
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993394
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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