A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448298



Internal ID22506168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130081245..130081564hg38UCSC Ensembl
chr7:129721085..129721404hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5913123
Supporting Variants
Samples
Known GenesKLHDC10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448298
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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