A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912329



Internal ID22687545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147781765..147887212hg38UCSC Ensembl
chr7:147478857..147584304hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38105448
hg19105448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17441409
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912329
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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