A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120078



Internal ID19259447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247466851..247470121hg38UCSC Ensembl
Outerchr1:247630153..247633423hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg383271
hg193271
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960822
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120078
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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