A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3955267



Internal ID19219832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7511005..7511071hg38UCSC Ensembl
Outerchr17:7414324..7414390hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127534
Supporting Variants
SamplesKWS1
Known GenesPOLR2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3955267
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