A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604721



Internal ID21524295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160178216..160178216hg38UCSC Ensembl
chr1:160148006..160148006hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061020
SamplesHG03125
Known GenesATP1A4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604721
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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