A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014424



Internal ID18756958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44284605..44318877hg38UCSC Ensembl
Innerchr2:44511744..44546016hg19UCSC Ensembl
Innerchr2:44365248..44399520hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3834273
hg1934273
hg1834273
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3799n100
Supporting Variantsnssv3581590
Samples
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014424
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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