A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv49n106



Internal ID19018158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16537805..16674405hg38UCSC Ensembl
chr1:16864300..17000900hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38136601
hg19136601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1124562, nsv1132281
SamplesKWS1, KWS2
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv49n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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