A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17457128



Internal ID22515009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202158997..202182740hg38UCSC Ensembl
chr1:202128125..202151868hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3823744
hg1923744
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828996
Supporting Variants
Samples
Known GenesPTPN7, PTPRVP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17457128
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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