A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444414



Internal ID222785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100003452..100003546hg38UCSC Ensembl
chr2:100619914..100620008hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915382
Samples
Known GenesAFF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444414
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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