A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948880



Internal ID22724342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147515328..147515328hg38UCSC Ensembl
chr7:147212420..147212420hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435410
Samples
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948880
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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