A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv54n100



Internal ID19010422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16544771..16888315hg38UCSC Ensembl
chr1:16871266..17214810hg19UCSC Ensembl
chr1:16743853..17087397hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38343545
hg19343545
hg18343545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011684, nsv1006764, nsv1008201, nsv999605, nsv1002009, nsv1009896
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv54n100
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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