A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2789954



Internal ID21235292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1584675..1584675hg38UCSC Ensembl
chr11:1605905..1605905hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13702471
Samples
Known GenesKRTAP5-1, KRTAP5-AS1, MOB2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2789954
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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