A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140231



Internal ID19285511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43593622..43594220hg38UCSC Ensembl
Outerchr1:44059293..44059891hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78n106
Supporting Variantsnssv3961288, nssv3983459
SamplesKWS2, KWS1
Known GenesPTPRF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140231
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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