A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17067258



Internal ID21454759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7506969..7507058hg38UCSC Ensembl
chr1:7567029..7567118hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5565519
Supporting Variants
SamplesHG02011
Known GenesCAMTA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17067258
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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