A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982439



Internal ID18859692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40685295..40685388hg38UCSC Ensembl
Outerchr1:41150967..41151060hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145337
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982439
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