A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003450



Internal ID19189690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155383508..155383809hg38UCSC Ensembl
Outerchr1:155353299..155353600hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150150
Supporting Variants
SamplesKWB1
Known GenesASH1L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003450
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