A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014445



Internal ID18756979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541845..143893007hg38UCSC Ensembl
Innerchr1:149036512..149387581hg19UCSC Ensembl
Innerchr1:147303136..147654205hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38351163
hg19351070
hg18351070
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv380n100
Supporting Variantsnssv3486372, nssv3487147, nssv3488051, nssv3492688, nssv3704003, nssv3704004, nssv3499880, nssv3490819, nssv3490930, nssv3500084, nssv3500488, nssv3489161, nssv3498939, nssv3494513, nssv3493623
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014445
Frequency
Sample Size29084
Observed Gain6
Observed Loss9
Observed Complex0
Frequencyn/a


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