A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17139913



Internal ID21478492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147735810..147738253hg38UCSC Ensembl
chr7:147432902..147435345hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382444
hg192444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5580420
Supporting Variants
SamplesHG03486
Known GenesCNTNAP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17139913
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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