A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003528



Internal ID18846289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21290387..21315088hg38UCSC Ensembl
Outerchr17:21193699..21218400hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3824702
hg1924702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150229
Supporting Variants
SamplesKWB1
Known GenesMAP2K3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003528
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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