A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3702n106



Internal ID20163059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152378215..152384915hg38UCSC Ensembl
chr7:152075300..152082000hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg386701
hg196701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1128964, nsv1115762
SamplesKWS1, KWS2
Known GenesKMT2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3702n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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