A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120114



Internal ID18922644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76050728..76052522hg38UCSC Ensembl
Outerchr17:74046809..74048603hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381795
hg191795
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960867
SamplesKWS1
Known GenesSRP68
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120114
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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