A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403802



Internal ID22461672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233137903..233137903hg38UCSC Ensembl
chr2:234002613..234002613hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5965148
Supporting Variants
Samples
Known GenesINPP5D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403802
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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