A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316248



Internal ID20849326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71825201..71827700hg38UCSC Ensembl
chr1:72290884..72293383hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18062989
Samples
Known GenesNEGR1, NEGR1-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316248
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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