A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013024



Internal ID18755555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145642988..145809393hg38UCSC Ensembl
Innerchr1:145625694..145792052hg19UCSC Ensembl
Innerchr1:144337051..144503409hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38166406
hg19166359
hg18166359
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv332n100
Supporting Variantsnssv3495873, nssv3484181, nssv3492704, nssv3702108, nssv3491119, nssv3484963, nssv3702107, nssv3484514, nssv3702111, nssv3493394, nssv3702105, nssv3497712, nssv3500434, nssv3494399, nssv3485146, nssv3489819, nssv3499047, nssv3497730, nssv3702109, nssv3487935, nssv3702106, nssv3702110
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)nsv1013024
Frequency
Sample Size29084
Observed Gain17
Observed Loss5
Observed Complex0
Frequencyn/a


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