A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283620



Internal ID22156412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:35603726..35610862hg38UCSC Ensembl
Outerchr10:35892654..35899790hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg381837
hg191837
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231688
Supporting Variants
SamplesHG00514
Known GenesGJD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283620
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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