A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463617



Internal ID22521503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31716000..31716999hg38UCSC Ensembl
chr12:31868934..31869933hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5862502
Supporting Variants
Samples
Known GenesAMN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463617
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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