A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv722254



Internal ID15669524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109710040..109713598hg38UCSC Ensembl
Innerchr1:110252662..110256220hg19UCSC Ensembl
Innerchr1:110054185..110057743hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383559
hg193559
hg183559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547495
Supporting Variants
Samples
Known GenesGSTM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv722254
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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