A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896577



Internal ID22671671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214512658..214514449hg38UCSC Ensembl
chr2:215377382..215379173hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381792
hg191792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407995
Samples
Known GenesVWC2L, VWC2L-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896577
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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