A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17381563



Internal ID22439433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56743073..56744689hg38UCSC Ensembl
chr1:57208746..57210362hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381617
hg191617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876692
Supporting Variants
Samples
Known GenesC1orf168
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17381563
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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