A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147555



Internal ID18848849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148414468..148414542hg38UCSC Ensembl
Outerchr7:148111560..148111634hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996341
SamplesKWB1
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147555
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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