A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062643



Internal ID21457522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210111289..210116040hg38UCSC Ensembl
chr1:210284634..210289385hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384752
hg194752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5577224
Supporting Variants
SamplesHG02587
Known GenesSYT14
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062643
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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