A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6499851



Internal ID20873076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34998758..35727531hg38UCSC Ensembl
chr17:33325777..34054550hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38728774
hg19728774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192909
Samples
Known GenesAP2B1, FNDC8, LIG3, NLE1, PEX12, RAD51D, RAD51L3-RFFL, RFFL, SLC35G3, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SNORD7, UNC45B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6499851
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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