A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547961



Internal ID15988684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155109822..155225189hg38UCSC Ensembl
Innerchr1:155082298..155194980hg19UCSC Ensembl
Innerchr1:153348922..153461604hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38115368
hg19112683
hg18112683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173208
Samples1798860443_A
Known GenesDPM3, EFNA1, GBAP1, KRTCAP2, MIR92B, MTX1, MUC1, SLC50A1, THBS3, TRIM46
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547961
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