A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382993



Internal ID22440863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30601695..31009572hg38UCSC Ensembl
chr17:28928713..29336590hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38407878
hg19407878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937217
Supporting Variants
Samples
Known GenesADAP2, ATAD5, CRLF3, DPRXP4, LRRC37BP1, RNF135, SH3GL1P2, SUZ12P1, TEFM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382993
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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