A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17351195



Internal ID22576864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6537995..6538098hg38UCSC Ensembl
chr12:6647161..6647264hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5907645
Supporting Variants
Samples
Known GenesGAPDH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17351195
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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