A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3699n106



Internal ID20163056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152273615..152277215hg38UCSC Ensembl
chr7:151970700..151974300hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1128963, nsv1124984
SamplesKWS1, KWS2
Known GenesKMT2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3699n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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