A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480049



Internal ID22537952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48446239..48477894hg38UCSC Ensembl
chr1:48911911..48943566hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3831656
hg1931656
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830072
Supporting Variants
Samples
Known GenesSPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480049
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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