A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17503754



Internal ID22561695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1976843..1978278hg38UCSC Ensembl
chr6:1977077..1978512hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381436
hg191436
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5845080
Supporting Variants
Samples
Known GenesGMDS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17503754
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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