A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116546



Internal ID18931015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42666179..42671674hg38UCSC Ensembl
Outerchr5:42666281..42671776hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg385496
hg195496
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978728
SamplesKWS2
Known GenesGHR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116546
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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