A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv67n100



Internal ID19010435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16609449..16660344hg38UCSC Ensembl
chr1:16935944..16986839hg19UCSC Ensembl
chr1:16808531..16859426hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3850896
hg1950896
hg1850896
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013907, nsv1013795
Samples
Known GenesCROCCP2, 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)dgv67n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss2
Observed Complex0
Frequencyn/a


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