A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338049



Internal ID20995602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180753712..180773846hg38UCSC Ensembl
chr2:181618439..181638573hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3820135
hg1920135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18081103
Samples
Known GenesSCHLAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338049
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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