A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6418280



Internal ID21075833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147821516..148110763hg38UCSC Ensembl
chr7:147518608..147807855hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38289248
hg19289248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18153924
Samples
Known GenesCNTNAP2, MIR548F3, MIR548T
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6418280
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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