A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5920749



Internal ID22695972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131492487..131492625hg38UCSC Ensembl
chr7:131177246..131177384hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430603
Samples
Known GenesMKLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5920749
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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