A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948202



Internal ID22723690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147560168..147560168hg38UCSC Ensembl
chr7:147257260..147257260hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17444780
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948202
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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