A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17503783



Internal ID22561724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2187120..2197117hg38UCSC Ensembl
chr6:2187354..2197351hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg389998
hg199998
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5845090
Supporting Variants
Samples
Known GenesGMDS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17503783
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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