A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430187



Internal ID209004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156805020..156809699hg38UCSC Ensembl
chr1:156774812..156779491hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg384680
hg194680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890928
Samples
Known GenesSH2D2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430187
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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