A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187075



Internal ID21325909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156735534..156735534hg38UCSC Ensembl
chr1:156705326..156705326hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3950585
Supporting Variants
SamplesHG002
Known GenesRRNAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187075
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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