A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339177



Internal ID20996730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195816702..195964117hg38UCSC Ensembl
chr2:196681426..196828841hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38147416
hg19147416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208235
Samples
Known GenesDNAH7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339177
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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