A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232002



Internal ID22372394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:56634554..56646400hg38UCSC Ensembl
chrX:56660987..56672833hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3811847
hg1911847
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14439969, nssv14388997
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232002
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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