A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15205333



Internal ID21344138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70221380..70221380hg38UCSC Ensembl
chr9:72836296..72836296hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3945972
Supporting Variants
SamplesHG002
Known GenesMAMDC2, SMC5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15205333
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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