A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1048708



Internal ID15555208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:4052149..4096444hg38UCSC Ensembl
Innerchr6:4052383..4096678hg19UCSC Ensembl
Innerchr6:3997382..4041677hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3844296
hg1944296
hg1844296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv600860
Supporting Variants
Samples
Known GenesC6orf201, FAM217A, PRPF4B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1048708
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