A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18063244



Internal ID20630284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78129891..78131208hg38UCSC Ensembl
chr1:78595575..78596892hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381318
hg191318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328285
Supporting Variants
Samples
Known GenesGIPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18063244
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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