A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010074



Internal ID18752605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16637216hg38UCSC Ensembl
Innerchr1:16871266..16963711hg19UCSC Ensembl
Innerchr1:16743853..16836298hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3892446
hg1992446
hg1892446
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv47n100
Supporting Variantsnssv3482510, nssv3475813
Samples
Known GenesCROCCP2, MIR3675, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010074
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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