A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339591



Internal ID20997144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73469201..73470900hg38UCSC Ensembl
chr2:73696328..73698027hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089720
Samples
Known GenesALMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339591
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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