A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3690n106



Internal ID19021799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148375708..148379308hg38UCSC Ensembl
chr7:148072800..148076400hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111829, nsv1130570, nsv1135253, nsv1120117
SamplesKWS1, KWS2
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3690n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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