A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120126



Internal ID19276757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177791547..177811533hg38UCSC Ensembl
Outerchr2:178656275..178676260hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3819987
hg1919986
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960881
SamplesKWS1
Known GenesPDE11A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120126
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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