A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2815248



Internal ID21260586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128798318..128798318hg38UCSC Ensembl
chr7:128438372..128438372hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13700272
Samples
Known GenesCCDC136
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2815248
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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