A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138139



Internal ID337321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39504133..39504600hg38UCSC Ensembl
chr1:39969805..39970272hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901630
Samples
Known GenesBMP8A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138139
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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