A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001109



Internal ID19090326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130044004..130170931hg38UCSC Ensembl
Innerchr3:129762847..129889774hg19UCSC Ensembl
Innerchr3:131245537..131372464hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38126928
hg19126928
hg18126928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3603890
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001109
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