A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960708



Internal ID22735678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27645368..27645368hg38UCSC Ensembl
chr7:27684987..27684987hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17431049
Samples
Known GenesHIBADH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960708
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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