A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453720



Internal ID22248424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130101282..130101625hg38UCSC Ensembl
chr7:129741122..129741465hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177110
Supporting Variants
SamplesHG00733
Known GenesKLHDC10
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14453720
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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