A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5637694



Internal ID21585999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148390019..148390019hg38UCSC Ensembl
chr7:148087111..148087111hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17140542
SamplesNA19983
Known GenesCNTNAP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5637694
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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