A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3688n106



Internal ID19021797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146503508..146511108hg38UCSC Ensembl
chr7:146200600..146208200hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg387601
hg197601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1139910, nsv1132660
SamplesKWS1, KWS2
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3688n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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