A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010912



Internal ID18753445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:219055474..219173262hg38UCSC Ensembl
Innerchr1:219228816..219346604hg19UCSC Ensembl
Innerchr1:217295439..217413227hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38117789
hg19117789
hg18117789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3493378
Samples
Known GenesLOC643723
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010912
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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