A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978728



Internal ID18900840
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 StatusS
Merged Variantsnsv1116546
Supporting Variants
SamplesKWS2
Known GenesGHR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978728
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer