A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6002751



Internal ID21912094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143343764..143343831hg38UCSC Ensembl
chr7:143040857..143040924hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17565239
Samples
Known GenesCLCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6002751
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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