A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382073



Internal ID22439943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61713210..61713366hg38UCSC Ensembl
chr1:62178882..62179038hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884818
Supporting Variants
Samples
Known GenesTM2D1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382073
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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