A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944572



Internal ID22720039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46210492..47098378hg38UCSC Ensembl
chr17:44287858..45175744hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38887887
hg19887887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386799
Samples
Known GenesARL17A, ARL17B, GOSR2, KANSL1, LOC644172, LRRC37A, LRRC37A2, MIR5089, NSF, NSFP1, RPRML, WNT3, WNT9B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944572
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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