A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003607



Internal ID19191346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:454937..476038hg38UCSC Ensembl
Outerchr1:343299..364400hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3821102
hg1921102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150308
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003607
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