A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336312



Internal ID20993865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178566101..178665200hg38UCSC Ensembl
chr2:179430828..179529927hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3899100
hg1999100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082742
Samples
Known GenesMIR548N, TTN, TTN-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336312
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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