A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215082



Internal ID20782122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140339301..140944600hg38UCSC Ensembl
chr5:139718886..140324185hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38605300
hg19605300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407401
Supporting Variants
Samples
Known GenesANKHD1, ANKHD1-EIF4EBP3, APBB3, CD14, DND1, EIF4EBP3, HARS, HARS2, HBEGF, IK, MIR3655, MIR6831, NDUFA2, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, SLC35A4, SLC4A9, SRA1, TMCO6, VTRNA1-1, VTRNA1-2, VTRNA1-3, WDR55, ZMAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215082
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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