A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17095192



Internal ID21431021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6362935..6362935hg38UCSC Ensembl
chr12:6472101..6472101hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5657165
Supporting Variants
SamplesHG00731
Known GenesSCNN1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17095192
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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