A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963949



Internal ID22738884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73860038..73860038hg38UCSC Ensembl
chr2:74087165..74087165hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409608
Samples
Known GenesSTAMBP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963949
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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