A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318811



Internal ID20851903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156240904..156244010hg38UCSC Ensembl
chr1:156210695..156213801hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg383107
hg193107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18052258
Samples
Known GenesBGLAP, PAQR6, PMF1-BGLAP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318811
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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