A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997019



Internal ID18847414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78509041..78509277hg38UCSC Ensembl
Outerchr17:76505123..76505359hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152422
Supporting Variants
SamplesKWB1
Known GenesDNAH17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997019
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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