A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000617



Internal ID18743148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187085330..187425784hg38UCSC Ensembl
Innerchr2:187950057..188290511hg19UCSC Ensembl
Innerchr2:187658302..187998756hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38340455
hg19340455
hg18340455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4132n100
Supporting Variantsnssv3583277
Samples
Known GenesCALCRL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000617
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