A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116447



Internal ID18930984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:39493284..39787386hg38UCSC Ensembl
Outerchr1:39958956..40253058hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38294103
hg19294103
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978628
SamplesKWS2
Known GenesBMP8A, BMP8B, HEYL, HPCAL4, NT5C1A, OXCT2, PABPC4, PPIE, PPIEL, SNORA55
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116447
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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