A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341581



Internal ID20999134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210468168..210468667hg38UCSC Ensembl
chr2:211332892..211333391hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085128
Samples
Known GenesLANCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341581
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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