A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17506990



Internal ID22564938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43141741..43143840hg38UCSC Ensembl
chr7:43181340..43183439hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5846607
Supporting Variants
Samples
Known GenesHECW1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17506990
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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