A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229628



Internal ID22371419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:46496127..46498877hg38UCSC Ensembl
OuterchrX:46355562..46358312hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271153
SamplesHG00732
Known GenesZNF674
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229628
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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