A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203631



Internal ID20770671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34559001..35179400hg38UCSC Ensembl
chr1:35024602..35645001hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38620400
hg19620400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317614
Supporting Variants
Samples
Known GenesDLGAP3, GJA4, GJB3, GJB4, GJB5, LOC653160, SMIM12, ZMYM1, ZMYM6, ZMYM6NB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203631
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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