A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15203342



Internal ID21342146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44992613..44992613hg38UCSC Ensembl
chr7:45032212..45032212hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927035
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15203342
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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