A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022720



Internal ID19111938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:103145965..103203675hg38UCSC Ensembl
Innerchr5:102481669..102539376hg19UCSC Ensembl
Innerchr5:102509568..102567275hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3857711
hg1957708
hg1857708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5751n100
Supporting Variantsnssv3645908
Samples
Known GenesPPIP5K2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022720
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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