A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125065



Internal ID19260756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:109837020..109841320hg38UCSC Ensembl
Outerchr9:112599300..112603600hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg384301
hg194301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977871
SamplesKWS2
Known GenesPALM2, PALM2-AKAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125065
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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