A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990286



Internal ID18886877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:77887943..77888005hg38UCSC Ensembl
Outerchr1:78353628..78353690hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137774
Supporting Variants
SamplesKWS2
Known GenesNEXN-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990286
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