A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6603296



Internal ID20976367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12042870..12685584hg38UCSC Ensembl
chr7:12082496..12725209hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38642715
hg19642714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18234135
Samples
Known GenesSCIN, TMEM106B, VWDE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6603296
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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