A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006313



Internal ID71832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138866953..138869087hg38UCSC Ensembl
chr7:138551699..138553833hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382135
hg192135
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557527
Supporting Variants
Samples
Known GenesKIAA1549
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006313
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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