A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173138



Internal ID15533113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145687602..145809105hg38UCSC Ensembl
Innerchr1:145625979..145747463hg19UCSC Ensembl
Innerchr1:144337336..144458820hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38121504
hg19121485
hg18121485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547665
Supporting Variants
SamplesNINDS_110
Known GenesCD160, LOC100288142, NBPF10, PDZK1, RNF115
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173138
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