A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17456156



Internal ID22514033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168242487..168245286hg38UCSC Ensembl
chr1:168211725..168214524hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828398
Supporting Variants
Samples
Known GenesSFT2D2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17456156
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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