A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978933



Internal ID19243099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43593597..43594240hg38UCSC Ensembl
Outerchr1:44059268..44059911hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140221
Supporting Variants
SamplesKWS2
Known GenesPTPRF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978933
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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