A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889352



Internal ID22664369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70049146..70924566hg38UCSC Ensembl
chr5:69344973..70220393hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38875421
hg19875421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429490
Samples
Known GenesGTF2H2B, GUSBP9, LOC441081, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889352
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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