A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6610980



Internal ID20984051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100548101..100840100hg38UCSC Ensembl
chr7:100145724..100437722hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38292000
hg19291999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18218320
Samples
Known GenesACTL6B, AGFG2, EPHB4, EPO, FBXO24, GIGYF1, GNB2, LRCH4, MOSPD3, PCOLCE, PCOLCE-AS1, POP7, SAP25, TFR2, ZAN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6610980
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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