A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14411894



Internal ID22291649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69590993..71269589hg38UCSC Ensembl
chr5:68886820..70565416hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381678597
hg191678597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202636
Supporting Variants
SamplesNA19240
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14411894
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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