A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6602521



Internal ID20975592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102167380..103063308hg38UCSC Ensembl
chr7:101810660..102703755hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38895929
hg19893096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18217356
Samples
Known GenesALKBH4, CUX1, FAM185A, FBXL13, LOC100289561, LOC100630923, LRRC17, LRWD1, MIR4285, MIR4467, MIR5090, ORAI2, POLR2J, POLR2J2, POLR2J3, PRKRIP1, RASA4, RASA4B, SH2B2, SPDYE2, SPDYE2B, SPDYE6, UPK3BL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6602521
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer