A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189181



Internal ID21327983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206524558..206524558hg38UCSC Ensembl
chr1:206697891..206697891hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3936071
Supporting Variants
SamplesHG002
Known GenesRASSF5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189181
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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