A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989122



Internal ID19228910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:170135502..170135811hg38UCSC Ensembl
Outerchr2:170992012..170992321hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135554
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989122
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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