A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv65n100



Internal ID20151681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16596505..16788205hg38UCSC Ensembl
chr1:16923000..17114700hg19UCSC Ensembl
chr1:16795587..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38191701
hg19191701
hg18191701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002975, nsv1013754, nsv1001363, nsv997416, nsv1005235, nsv1008595, nsv1009781
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)dgv65n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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