A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812991



Internal ID21258329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76170756..76173077hg38UCSC Ensembl
chr5:75466581..75468902hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382322
hg192322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13700628
Samples
Known GenesSV2C
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812991
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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