A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469929



Internal ID21127482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102890884..102895562hg38UCSC Ensembl
chr12:103284662..103289340hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384679
hg194679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17995610
Samples
Known GenesPAH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469929
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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