A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481224



Internal ID22539128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76446891..76452140hg38UCSC Ensembl
chr1:76912576..76917825hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385250
hg195250
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830466
Supporting Variants
Samples
Known GenesST6GALNAC3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481224
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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