A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17496264



Internal ID22554198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148260917..148304789hg38UCSC Ensembl
chr5:147640480..147684352hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3843873
hg1943873
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5841179
Supporting Variants
Samples
Known GenesLOC102546294, SPINK13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17496264
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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