A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555987



Internal ID329135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6997644..7111528hg38UCSC Ensembl
chr17:6900963..7014847hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38113885
hg19113885
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711170
Samples
Known GenesALOX12, ASGR2, BCL6B, C17orf49, CLEC10A, LOC100506713, MIR195, MIR497, MIR497HG, RNASEK, RNASEK-C17orf49, SLC16A11, SLC16A13
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555987
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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