A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983546



Internal ID19238698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5014277..5014376hg38UCSC Ensembl
Outerchr17:4917572..4917671hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125372
Supporting Variants
SamplesKWS2
Known GenesKIF1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983546
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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