A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149043



Internal ID19199848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93614817..93615718hg38UCSC Ensembl
Outerchr9:96377099..96378000hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002551
SamplesKWB1
Known GenesPHF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149043
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