A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6604912



Internal ID20977983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44521401..44523100hg38UCSC Ensembl
chr7:44561000..44562699hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18154605
Samples
Known GenesNPC1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6604912
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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