A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998073



Internal ID18810923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16596505..16643949hg38UCSC Ensembl
Innerchr1:16923000..16970444hg19UCSC Ensembl
Innerchr1:16795587..16843031hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3847445
hg1947445
hg1847445
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3476266, nssv3474789, nssv3479724, nssv3470797, nssv3463501, nssv3698883, nssv3473772, nssv3471934
Samples
Known GenesCROCCP2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998073
Frequency
Sample Size29084
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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