A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3945676



Internal ID21365746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117121887..117121887hg38UCSC Ensembl
chr7:116761941..116761941hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15203933
SamplesHG002
Known GenesST7, ST7-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3945676
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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