A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475033



Internal ID21132586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71153423..71154476hg38UCSC Ensembl
chr11:70864469..70865522hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17992854
Samples
Known GenesSHANK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475033
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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