A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999043



Internal ID18811893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248773357..248930177hg38UCSC Ensembl
Innerchr1:249067556..249224376hg19UCSC Ensembl
Innerchr1:247034179..247190999hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38156821
hg19156821
hg18156821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3488467, nssv3486206
Samples
Known GenesMIR3124, PGBD2, SH3BP5L, ZNF672, ZNF692
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999043
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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