A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17369465



Internal ID22595134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30792865..30797020hg38UCSC Ensembl
chr12:30945799..30949954hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg384156
hg194156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5907556
Supporting Variants
Samples
Known GenesLINC00941
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17369465
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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