A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv872248



Internal ID15819518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45511832..45519617hg38UCSC Ensembl
Innerchr17:43589198..43596983hg19UCSC Ensembl
Innerchr17:40944981..40952766hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387786
hg197786
hg187786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575108
Supporting Variants
Samples
Known GenesLRRC37A4P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv872248
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