A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129344



Internal ID19263539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:39212001..39225517hg38UCSC Ensembl
Outerchr1:39677673..39691189hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3813517
hg1913517
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962778
SamplesKWS1
Known GenesMACF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129344
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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