A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3956227



Internal ID19211104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50472002..50472259hg38UCSC Ensembl
Outerchr19:50975259..50975516hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127694
Supporting Variants
SamplesKWS1
Known GenesFAM71E1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3956227
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