A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001090



Internal ID19090307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178690798..178705041hg38UCSC Ensembl
Innerchr1:178659933..178674176hg19UCSC Ensembl
Innerchr1:176926556..176940799hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3814244
hg1914244
hg1814244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv468n100
Supporting Variantsnssv3494047, nssv3487181, nssv3493563, nssv3487761, nssv3499798, nssv3499533, nssv3492941, nssv3493840, nssv3490217, nssv3492118, nssv3501367, nssv3483109, nssv3498612
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001090
Frequency
Sample Size11257
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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