A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6030242



Internal ID21939585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18364791..19058991hg38UCSC Ensembl
chr17:18268105..18962304hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38694201
hg19694200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17623897
Samples
Known GenesCCDC144B, EVPLL, FAM106A, FAM83G, FBXW10, FLJ35934, FOXO3B, GRAP, KRT16P1, LGALS9C, LOC339240, PRPSAP2, SLC5A10, TBC1D28, TRIM16L, TVP23B, USP32P2, ZNF286B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6030242
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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