A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065421



Internal ID19154640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2721635..2776813hg38UCSC Ensembl
Innerchr18:2721633..2776811hg19UCSC Ensembl
Innerchr18:2711633..2766811hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3855179
hg1955179
hg1855179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3314n100
Supporting Variantsnssv3564065
Samples
Known GenesSMCHD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065421
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