A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978630



Internal ID19233506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248430716..248661542hg38UCSC Ensembl
Outerchr1:248594017..248824843hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38230827
hg19230827
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116449
Supporting Variants
SamplesKWS2
Known GenesOR2G6, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978630
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