A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001940



Internal ID19091157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:89928002..90224032hg38UCSC Ensembl
Innerchr2:89966812..90262898hg19UCSC Ensembl
Innerchr2:89604119..89900203hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38296031
hg19296087
hg18296085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3975n100
Supporting Variantsnssv3580461, nssv3580460, nssv3580463, nssv3731288, nssv3580462
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001940
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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