A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv62n100



Internal ID19010430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16583102..16767559hg38UCSC Ensembl
chr1:16909597..17094054hg19UCSC Ensembl
chr1:16782184..16966641hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38184458
hg19184458
hg18184458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005218, nsv1009059, nsv1005387, nsv1007115, nsv998373
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)dgv62n100
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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