A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004444



Internal ID18746975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145664432..145809393hg38UCSC Ensembl
Innerchr1:145625694..145770627hg19UCSC Ensembl
Innerchr1:144337051..144481984hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38144962
hg19144934
hg18144934
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv332n100
Supporting Variantsnssv3500121, nssv3484029, nssv3492514
Samples
Known GenesCD160, GPR89A, LOC100288142, NBPF10, PDZK1, RNF115
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004444
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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