A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152523



Internal ID19198707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119996076..120006077hg38UCSC Ensembl
Outerchr1:120538699..120548700hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3810002
hg1910002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999703
SamplesKWB1
Known GenesNOTCH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152523
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