A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801975



Internal ID21247313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51804490..51804490hg38UCSC Ensembl
chr1:52270162..52270162hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13703342
Samples
Known GenesNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801975
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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